Feeds:
Posts
Comments

Posts Tagged ‘FDA’

FDA Contemplates Changes in Trial Design, Drug Development and Use of AI in Clinical Trials

Curator: Stephen J. Williams, Ph.D.

Several pharma companies just told the FDA what AI in clinical trials should look like.

It is not what most people expect.
I went back through the RTCT comment letters from Novartis, Lilly, Bayer, Daiichi and others. Read together, they are the clearest signal yet on how AI will get adopted in drug development over the next few years.
Three things they make clear.
Adoption starts at the data layer, not the decision layer. Every letter drew the same line: AI supports qualified clinical judgment, it does not replace it. Daiichi was explicit that AI should not autonomously make dose escalation or safety decisions. But underneath that line, they want automation everywhere. Reconciliation, coding consistency, discrepancy detection, safety surveillance. That is where AI enters trials first, and it is where the near-term value is.
The bar is oversight, not sophistication. Lilly put it best: the FDA should select for the most mature oversight of AI, not the most mature AI. Across the letters, the requirements are validation, audit trails, data lineage, change control, human review that is evidenced rather than assumed. A brilliant model with weak governance does not clear this bar. A well governed one doing unglamorous work does.
The industry is already building the plumbing. Lilly and Bayer, independently, both proposed a DMF-style pathway letting AI vendors disclose model documentation directly to the FDA with sponsors referencing it.
Put those together and the future looks less like AI making trial decisions and more like AI making trial data trustworthy fast enough for humans to decide sooner.
The sponsors who lead this will not be the ones with the most sophisticated models. They will be the ones whose data operations were modernized and able to clean enough to move in real time.

 

FDA News Release

FDA Announces Major Steps to Implement Real-Time Clinical Trials

Agency unveils real-time trial proofs-of-concept and upcoming pilot program

For Immediate Release:

April 28, 2026

On May 27, 2026, the FDA posted a notice in the Federal Register extending the comment period for the Request for Information until June 29, 2026. 

The U.S. Food and Drug Administration today announced two major steps as part of an initiative to advance the implementation of real-time clinical trials (RTCT). First, the agency unveiled the successful initiation of two proof-of-concept clinical trials that will report endpoints and data signals to the agency in real time. Second, the agency released a Request for Information (RFI) regarding a proposed pilot program for RTCT that will launch this summer.  

Early-phase clinical trials are a bottleneck in drug development, often characterized by high uncertainty, limited patient populations, and inefficient decision-making processes. Data is typically reported from sites to sponsors, who analyze and subsequently submit data to the FDA. With improvements in AI and data science, sponsors and trial sites have the opportunity to conduct real-time trials in a way that enhances safety monitoring and radically increases efficiency.  

“For 60 years, we’ve been conducting clinical trials in the same way, where key data signals can take years to reach the FDA. The lag time can delay regulatory decisions unnecessarily and slow down the drug development timeline,” said FDA Commissioner Marty Makary, M.D., M.P.H. “We are boldly advancing a modern approach whereby FDA scientists can view safety signals and endpoints in real time as a trial progresses. This will help us accelerate promising therapies, and build toward our ultimate goal of running real-time, continuous trials across all phases of drug development.”  

The FDA is announcing the successful initiation of proof-of-concept RTCTs by AstraZeneca and Amgen. AstraZeneca is conducting a Phase 2 multi-site trial, TRAVERSE, in patients with treatment-naïve mantle cell lymphoma, with participation from The University of Texas MD Anderson Cancer Center and University of Pennsylvania. Amgen is conducting a Phase 1b trial, STREAM-SCLC, in patients with limited-stage small cell lung carcinoma and final site selection is in process. For each trial, the FDA met with the sponsor on the establishment of criteria for reporting signals in real time. The agency has since received and validated signals for AstraZeneca’s trial through Paradigm Health, thereby establishing the feasibility of the technical framework required for real-time signal sharing.

The FDA seeks to build on these proofs-of-concept with a broader pilot program. Today’s RFI seeks input on potential pilot program design and implementation, as well as evaluation metrics and success criteria.

“Real-time trials have been talked about for years. We demonstrated that it is not only possible, but also potentially transformative for the clinical trials ecosystem,” said Chief AI Officer Jeremy Walsh. “We have to consider our processes from the standpoint of a patient awaiting a potentially powerful treatment.”

Real-time clinical trials are an important step towards the agency’s goal of facilitating continuous trials. At present, most clinical development occurs in discrete phases. Because each defined phase of clinical development is run according to a protocol and typically as a separate study, there is generally a hiatus in the development program after one phase ends and the next begins. This slows the pace of product development. Because real-time trials allow the FDA to view key insights in real time, this hiatus could be eliminated or reduced to a minimum, enabling “continuous” trials.

The agency will accept comments on the RFI until May 29, 2026. The agency intends to disseminate final selection criteria in July and complete pilot selections in August. 

https://www.youtube.com/live/hPT6X4SKOjw?si=ZfLrn3NmYvyqFILm

 

https://www.ajmc.com/view/fda-will-require-only-1-study-to-approve-new-drugs-speeding-up-process

 

News|Articles|February 19, 2026

FDA Will Require Only 1 Study to Approve New Drugs, Speeding Up Process

Author(s)Julia Bonavitacola

Fact checked by: Christina Mattina

A commentary by FDA officials Vinay Prasad, MD, MPH, and Martin Makary, MD, MPH, details the new system for drug approvals in the US.

FDA Commissioner Martin Makary, MD, MPH, and his top deputy Vinay Prasad, MD, MPH, announced in a commentary published in The New England Journal of Medicine that the FDA will revamp its method of approving drugs for use in the US.1 The commentary announced that the agency’s historic reliance on 2 clinical trials will end, with only 1 pivotal trial needed for a drug to be approved for use nationwide.

“Going forward, the FDA’s default position is that 1 adequate and well-controlled study, combined with confirmatory evidence, will serve as the basis of marketing authorization of novel products,” the FDA officials wrote in their commentary.

The FDA had previously worked under guidelines stating that “adequate and well-controlled investigations” were needed before a drug could be approved for widespread use, which were interpreted as generally requiring 2 clinical investigations.2 These guidelines had been in place since 1998, with only supplementary guidance published in 2019 and 2023. The newly announced shift marks the first substantial change in the methods of FDA approvals since the FDA obtained the authority to grant marketing authorizations.1

Makary and Prasad noted that these guidelines had been flexible in the past—specifically in oncology, where 1 study was often enough for a drug approval—but were confusing to drug manufacturers seeking to understand when only 1 trial would be acceptable. Moving forward, the default of using only 1 trial to grant a drug approval should clear up questions surrounding the necessary number of trials.

“The FDA’s historical reliance on 2 clinical trials rather than 1 was intended to provide credible causal evidence that a therapy could improve clinical outcomes with acceptable safety in a world where biologic understanding was more limited than it is today,” the FDA officials wrote. “Two trials should be seen as just 1 of many interlocking facets of clinical credibility, and in 2026 there are powerful alternative ways to feel assured that our products help people live longer or better than requiring manufacturers to test them yet again.”

This move is another step in Makary’s attempts to shorten FDA reviews, which started when he began his tenure last year.3 These include mandating the use of artificial intelligence for staffers and offering new medications a 1-month drug assessment if the FDA believes that the drug serves a national interest.

About 60% of first-of-a-kind drugs have been approved based on a single study in the past 5 years due to legislative initiatives that encouraged flexibility in reviewing drugs for conditions that were hard to treat. The drugs more likely to be affected by this new standard are for common diseases rather than those for rare diseases or cancers, which were already more often receiving approval based on a single trial.

This announcement comes a day after the FDA announced that it will now review Moderna’s seasonal mRNA flu vaccine application, which it had previously refused to look at due to perceived safety and efficacy concerns.4 The increased scrutiny of vaccines presents a contrast to the newly streamlined default standard for FDA approvals.

References

  1. Prasad V, Makary MA. One pivotal trial, the new default option for FDA approval—ending the two-trial dogma. N Engl J Med. 2026;394(8):815-817. doi:10.1056/NEJMsb2517623
  2. Demonstrating substantial evidence of effectiveness with one adequate and well-controlled clinical investigation and confirmatory evidence. FDA. Updated November 30, 2023. Accessed February 19, 2026. https://www.fda.gov/regulatory-information/search-fda-guidance-documents/demonstrating-substantial-evidence-effectiveness-one-adequate-and-well-controlled-clinical
  3. Perrone M. FDA will drop two-study requirement for new drug approvals, aiming to speed access. AP News. Updated February 18, 2026. Accessed February 19, 2026. https://apnews.com/article/fda-drug-approval-studies-makary-prasad-a5aaa5501ae15f264bbd20d0dffa4dc4
  4. Steinzor P. FDA reverses course, will review Moderna’s mRNA flu vaccine. AJMC®. February 18, 2026. Accessed February 19, 2026. https://www.ajmc.com/view/fda-reverses-course-will-review-moderna-s-mrna-flu-vaccine

 

Pharm Stat. 2022 Aug 26;22(1):96–111. doi: 10.1002/pst.2262

Should the two‐trial paradigm still be the gold standard in drug assessment?

Stella Jinran Zhan 

1

, Cornelia Ursula Kunz 

2

, Nigel Stallard 

1,

✉

  • Author information
  • Article notes
  • Copyright and License information

PMCID: PMC10087480  PMID: 36054079

Abstract

Two significant pivotal trials are usually required for a new drug approval by a regulatory agency. This standard requirement is known as the two‐trial paradigm. However, several authors have questioned why we need exactly two pivotal trials, what statistical error the regulators are trying to protect against, and potential alternative approaches. Therefore, it is important to investigate these questions to better understand the regulatory decision‐making in the assessment of drugs’ effectiveness. It is common that two identically designed trials are run solely to adhere to the two‐trial rule. Previous work showed that combining the data from the two trials into a single trial (one‐trial paradigm) would increase the power while ensuring the same level of type I error protection as the two‐trial paradigm. However, this is true only under a specific scenario and there is little investigation on the type I error protection over the whole null region. In this article, we compare the two paradigms by considering scenarios in which the two trials are conducted in identical or different populations as well as with equal or unequal size. With identical populations, the results show that a single trial provides better type I error protection and higher power. Conversely, with different populations, although the one‐trial rule is more powerful in some cases, it does not always protect against the type I error. Hence, there is the need for appropriate flexibility around the two‐trial paradigm and the appropriate approach should be chosen based on the questions we are interested in.

 

Szczepan Baran

Making preclinical evidence predict the clinic for 2- and 4-Legged Patients |  CSO, Instem | Co-Founder, Digital Preclinical Society | Co-Chair, VQN | President, 3Rs Collaborative

View my newsletter

1mo •

Connect

For fifty years, preclinical safety ran on one rule: do the animal study, then justify the exception. Last week the #FDA‘s #OncologyCenterofExcellence released a draft guidance that quietly turns that rule around. Read the headlines and it is an animal-reduction story. One relevant species instead of two. A single three-month study instead of separate one- and three-month studies. A structured risk assessment in place of a study. And yet the reduction is not the point. The precondition is.


Each of those moves is permitted only when you already understand the product, the #targetbiology, and the #toxicity well enough to defend the omission. The study used to be the default. Now the knowledge is the default, and the study is what you add when the knowledge runs out. That is a higher bar, not a lower one. Dropping a study you cannot defend is easy. Defending the decision is the work.

Here is the part that should focus the mind. Across 7,565 drugs and five species, only one of 26 system organ classes showed strong cross-species concordance for both small molecules and biologics. Running the study was never the same as understanding the risk. I wrote this week’s Digital Record on what the guidance actually asks of sponsors, and why the teams that win the timeline treat their evidence as an asset, not an archive. If you lead nonclinical safety or translational science for an oncology biologic or a conjugate, read it as an evidence standard, then ask the harder question of your own programs: which study are you running out of habit, and could you defend dropping it on Monday. Know more. Run less. Defend both.


Issue #3 is free here: https://lnkd.in/eSYzkh_x

 

FDA Reports Meeting Year One Goals for Reducing Animal Drug Testing

June 8, 2026

On May 29, 2026, the Food and Drug Administration (FDA) released its latest guidance related to FDA’s intent to reduce unnecessary animal testing for nonclinical safety assessments, Oncology Pharmaceuticals: Streamlined Nonclinical Safety Studies for Biologics and Conjugated Products. The guidance is intended to help reduce unnecessary animal testing by incorporating an integrated knowledge-based risk assessment with a focus on three-month toxicology studies for certain oncology pharmaceuticals.

Sponsors may propose alternative approaches for a three-month general toxicology study for product classes not described in the guidance, provided such approaches are sufficient to address product safety. Such approaches for a three-month general toxicology study may include a non-sacrificial toxicology study, an alternative study design to reduce animal numbers, or a weight of evidence (WoE) risk assessment for products with well-understood targets to replace animal studies. These approaches could be supplemented with new approach methodologies (NAMs), as appropriate.

FDA’s recommendations cover general toxicology and WoE Assessment. For general toxicology, FDA stated that animal toxicology studies should use pharmacologically relevant species or WoE risk assessment in its absence. FDA stated that if pharmacological activity is similar to humans in both rodent and non-rodent species, then general toxicology may be conducted in a single rodent species and supplemented with WoE risk assessment as appropriate.

A WoE risk assessment may include multiple factors. The factors include nonclinical and clinical data generated with the investigational product (e.g., pharmacology, safety, and pharmacokinetics), a literature-based assessment of potential toxicities with the molecular target, toxicity findings in animals and humans associated with the same class of pharmaceuticals, and other data. The Center for Drug Evaluation and Research’s (CDER) oncology review divisions will determine when the WoE risk assessment is sufficient to address the safety risks based on the totality of evidence.

This guidance builds upon FDA’s initial Roadmap to Reducing Animal Testing in Preclinical Safety Studies (April 2025) to provide a strategic, stepwise approach using NAMs, such as organ-on-a-chip systems, computational modeling, and advanced in vitro assays (e.g., organoids and microphysiological systems). The principles come from a growing scientific recognition that animals are inadequate models of human health, i.e., over 90% of drugs that appear safe and effective in animals do not go on to receive approval in humans. In addition, the time and cost of long-term animal studies delay therapies reaching patients, e.g., developing a monoclonal antibody costs $600-750 million and may take up to nine years, with typical programs using 144 non-human primates at costs reaching $50,000 per animal.

FDA’s one-year progress report, Reducing Animal Testing in Nonclinical Studies Year One Progress and the Path Forward (April 2026) declared that the necessary foundations or goals had been met or exceeded, resulting in additional guidance. Some of those goals included:

  • On July 31, 2025, FDA made the Innovative Science and Technology Approaches for New Drugs pilot program permanent. The program employs the Drug Development Tool Qualification regulatory framework, providing a clear, predictable pathway for developers to gain formal FDA acceptance of NAMs.
  • In August 2025, FDA and the National Institutes of Health formalized a partnership in a Memorandum of Understanding to accelerate the standardization, qualification, and adoption of human-relevant alternative methods.
  • In October 2025, the CDER / Office of New Drugs Streamlined Nonclinical Studies and Acceptable New Approach Methodologies database went live, providing a searchable, regularly updated inventory of specific drug development contexts where streamlined nonclinical programs are acceptable.
  • In November 2025, FDA researchers from the National Center for Toxicological Research and CDER, collaborating with Emulate Inc. and the University of North Carolina at Chapel Hill, published challenges and solutions in measuring commonly used biomarkers for drug-induced liver injury in a liver-on-a-chip platform.
  • On December 2, 2025, FDA released draft guidance, Monoclonal Antibodies: Streamlined Nonclinical Safety Studies.
  • On December 8, 2025, FDA crossed a technological threshold by qualifying the AI-Based Histologic Measurement of NASH its first AI-based drug development tool for use in metabolic dysfunction-associated steatohepatitis clinical trials.
  • On March 18, 2026, FDA published a draft guidance document: General Considerations for the Use of New Approach Methodologies that established four core validation principles to transform the abstract question of “When is an alternative acceptable?” into concrete, actionable requirements. On the same date, FDA’s Level 2 update to “Pyrogen and Endotoxins Testing: Questions and Answers” guidance provided the flexibility for manufacturers to transition from Limulus Amoebocyte Lysate (LAL) reagents for bacterial endotoxin testing to transition from harvesting horseshoe crabs for production of LAL reagent to recombinant agents.

We will continue to monitor FDA’s continuing implantation of a framework to reduce animal testing in nonclinical studies.

This blog was drafted by Brian Malkin, a Spencer Fane attorney on the FDA Pharmaceutical and Biologics Market Team. For more information, visit spencerfane.com.

 

https://www.the-scientist.com/is-this-the-end-of-animal-testing-fda-announces-plans-to-phase-out-animals-in-drug-safety-studies-73031

 

F

or decades, preclinical testing in mice, rats, and nonhuman primates has been a crucial part of drug development, an important although not infallible way to ensure some measure of safety for human participants in clinical trials. In 2022, Congress passed the FDA Modernization Act 2.0, stating that the agency was no longer compelled by law to require animal testing.1 However, the act did not prohibit the FDA from requiring animal testing, and animal toxicity data remained an essential step in the path towards human trials.

But on April 10, the FDA announced plans to phase out these requirements, stating that they would be “reduced, refined, or potentially replaced” with New Approach Methodologies (NAMs). These methods include human-derived cell models, such as organoids and organ-on-a-chip systems, as well as in silico approaches such as pharmacokinetic modeling and toxicity-predicting machine learning algorithms. Within the year, certain monoclonal antibodies, which are most commonly used in the treatment of cancer and serious autoimmune disease, could be evaluated using a “primarily non-animal-based testing strategy.” According to the roadmap accompanying the FDA announcement, “In the long-term (3–5 years), FDA will aim to make animal studies the exception rather than the norm for pre-clinical safety/toxicity testing.”

This announcement has been met with both hopefulness and concern in the scientific community. On one hand, there is broad support for moving away from animal testing, which is ethically fraught, expensive, and not always predictive of human biological responses. On the other hand, scientists and pharmaceutical industry professionals have expressed that NAMs are not yet advanced enough to fully replace animal models.2,3 Moreover, there are concerns that dramatic reductions in budgets for scientific research and the firing of thousands of workers at the FDA and NIH will stall further development of NAMs and interfere with the functioning of the very systems that would be responsible for validating, standardizing, and monitoring the efficacy of these technologies.

Alex Rubinsteyn, a University of North Carolina at Chapel Hill researcher who uses machine learning approaches to inform the development of personalized cancer vaccines, supports reducing animal testing but is uncertain about how this will play out in practice in the current climate. “I think this could become a disaster,” he said. “But it could also potentially unlock a much faster rate of progress.”

Few would dispute the shortcomings of current animal testing pathways: About 90 percent of drugs that make it through preclinical trials never obtain FDA approval for use in humans, largely due to insufficient efficacy or safety.4 Joseph Wu, who studies patient-specific in vitro models of cardiovascular disease at Stanford University, said that this high failure rate is partly due to the inherent differences between human and rodent biology. Furthermore, he noted, “The heterogeneity that exists among humans cannot be captured by using a traditional mouse model.”

Additionally, despite attempts to streamline evaluations of drugs for currently untreatable diseases, “[Drug development] is still really slow and really expensive,” said Rubinsteyn. “And it’s unmatched to clinical realities for certain kinds of disease: There are sufficiently deadly diseases where you really would want to go much faster than you’re allowed to go.”

How Do In Vitro and In Silico Approaches Stack Up Against In Vivo?

Despite the inherent flaws in animal testing, many researchers say that NAMs are not yet advanced enough to fully replace traditional drug safety studies. For example, in a late 2024 report to the FDA Science Board, members of the NAMs subcommittee—convened in 2023 to provide recommendations on integrating NAMs into regulatory processes—wrote that, “Technical limitations to current NAMs exist…today, no assays fully capture the critical hazard endpoints for assessing all currently existing human or animal organ systems; therefore, NAMs cannot fully eliminate the use of integrated physiological systems such as in animal and human trials.”2

In a published response to the FDA announcement, the president of the National Association for Biomedical Research, Matthew Bailey, echoed these sentiments. “No AI model or simulation has yet demonstrated the ability to fully replicate all the unknowns about many full biological systems.”

Similarly, Rubinsteyn noted that while these models can be useful when the space is sufficiently constrained, in other situations, they are still no match for the complexity of biology. “The thing that I work on the most—personalized cancer vaccines—is totally plagued by machine learning models not capturing the relevant realm.”

“We could improve those models with cell lines, but ultimately, the cell lines will be different if we put them in the context of a living organism,” he continued. “[In vivo], the tumor cells will shift what they express. They have to deal with being in contact with other cells in the tissue. They’ll have to pull in vasculature, and they’ll have to deal with the immune environment. So, they’re going to shift how they behave.”

To address this problem, other research groups are building organ-on-a-chip systems as a closer approximation of how cells behave in living tissues. These models can have layers of cells supported by an extracellular matrix with a simplified vascular system, recapitulating some of the cell-cell interactions and mechanical forces present in a living organism.

Yu Shrike Zhang, a Harvard Medical School researcher who uses bioprinting, microfluidics, and other techniques to create improved organ-on-a-chip platforms, noted that these models are quite advanced for certain tissue types.5 “For the liver, the models are pretty precise in general,” Zhang said. “It’s been [studied] for a very long time, and people know exactly how it works.”

Indeed, a liver-on-a-chip model developed by the biotechnology company Emulate, Inc., was able to correctly identify drugs known to be toxic or nontoxic to the liver with a sensitivity of 87 percent and a specificity of 100 percent.6

Using organ-on-a-chip models, Zhang said, “In three to five years, I think we can probably get to a pretty high level in terms of testing [toxicity or biological responses] for individual organs.” Modeling interactions between different organs, however, is a more challenging task. Crosstalk between organ systems is complex and incompletely understood, and organs can be influenced, or influence each other, via changes in metabolism, blood circulation, immune function, endocrine signalling, or nervous system activity.7

Scaling is also a concern, according to Zhang. As size changes, different physical forces and properties increase or decrease in different ways. So, it is not yet entirely clear how to best model a 200-pound human body using organ-on-a-chip systems, some of which may be only a few cell layers thick.

“Things are quite complicated, both biologically and in terms of how these devices operate,” said Zhang. “Being able to really reproduce that organism-level interaction—I think that’s still something that will be really important to look into. Maybe that’s something that’s going to be mature in the next three to five years? I mean, no one knows. But I think that’s probably one of the major limitations right now.”

Refine, Reduce, Replace and the Promise of NAMS

Even scientists who are extremely enthusiastic about NAMs seem to view them as a tool to reduce, not completely replace animal testing. Wu, for example, has spent decades developing in vitro models using cardiomyocytes derived from human induced pluripotent stem cells (iPSCs) to improve our understanding of cardiovascular disease. He has created an extensive biobank of human iPSCs, capturing genetic diversity in health and disease, and even founded a company, Greenstone Biosciences, which aims to accelerate the drug discovery process by combining in vitro and in silico approaches.

However, Wu said, “I’m a proponent of using all models. I’m not a proponent of saying that, ‘Oh, in the future, we should just get rid of mouse models.’” Instead, he said, applying these strategies prior to animal testing could greatly reduce the number of animals that would be needed for each experiment, enabling researchers to identify promising targets and screen for well-defined types of toxicity.

For example, Wu was part of a project led by fellow Stanford University cardiovascular biologist Mark Mercola, in which the team used iPSC-derived human cardiomyocytes and machine learning to classify existing drugs as low risk or intermediate/high risk for causing dangerous arrhythmias. Using area under the curve as a measure of the model’s accuracy—for which 0.5 indicates a random classifier and one is a perfect classifier—the model correctly identified risk with an area under the curve value of 0.95.8 In the future, a system like this one could help researchers spot potentially cardiotoxic compounds early in the drug development process. This has the potential to prevent the investment of time, money, and animal lives into investigating a drug that might treat one disease very well but be ultimately useless because of severe adverse effects.

Furthermore, unlike studies performed in strains of genetically identical mice, research with human cells can provide not only general safety predictions, but they also help identify which individuals might be most at risk for particular side effects and even suggest mechanisms for mitigating these effects.

For example, the chemotherapy drug doxorubicin can lead to heart failure in a subset of patients, but for many years, the mechanism of this cardiotoxicity was not known, and there was no way to predict which patients were at risk. In a study of eight breast cancer patients, Wu and his team showed that iPSC-derived cardiomyocytes from patients who experienced this side effect were more sensitive to doxorubicin toxicity than cells from patients who did not. 9 In the future, this could serve as a tool for screening patients prior to treatment. In a subsequent study, the researchers used a CRISPR-based approach to screen cardiomyocytes for genes that contributed to this vulnerability. One gene, which coded for the enzyme carbonic anhydrase 12, seemed to play a large role: When expression of this gene was inhibited in the cells, they were protected from doxorubicin toxicity.10 An antagonist of this enzyme, Indisulam, was also protective in heart cells. Only after all these experiments did the researchers test the drug in mice.

Continue reading below…

Since then, Wu and his team have used iPSC-derived cells, patient data, and AI to identify a candidate compound for the treatment of marijuana-induced vasculature inflammation, and two potential therapies for cardiac fibrosis.11–13 “These three papers all have mouse models, but they’re toward the end,” said Wu. “They’re only done for validation—the initial screen, initial validation, initial design, all that stuff is done [using] organoids, stem cells, and AI.”

The first candidate is currently in a Phase 1 clinical trial for the treatment of inflammation associated with heart failure, the second is in an open-label study for treating idiopathic pulmonary fibrosis. In the coming years, studies such as these will provide crucial data to answer the question of whether these newer drug development techniques can increase efficiency and reduce failure rates in clinical trials.

An Uncertain Future for Drug Development

Much work remains to be done, however, if animal testing is to be truly replaced in the next three to five years. In addition to the development of the NAMs technologies themselves, the FDA roadmap also calls for the creation of open-access toxicity information databases, developing strategies to validate NAMs, determining appropriate thresholds for eliminating animal testing, figuring out how to standardize these techniques so that they can be compared across many different laboratories, coordinating with other federal agencies, and monitoring how well all of this is working.

“Transitioning from animal-based testing to NAMs for safety will require careful planning, robust science, and collaboration,” the roadmap states.

But will this be possible in the chaos currently afflicting many government agencies and the dramatic changes to support for scientific research in the United States? The Trump administration has already terminated 1.8 billion dollars in National Institutes of Health (NIH) grants; the administration’s proposal for the upcoming year would slash the budget of the NIH by 40 percent.14,15

Some of these governmental budget cuts and funding freezes adversely impact the laboratories that have been instrumental in developing the very NAMs technologies the FDA is hoping to promote. For example, Harvard University bioengineer Donald Ingber, a pioneer in organ-chip research and scientific founder of Emulate, Inc., received stop-work orders on two major organ-on-a-chip projects in late April 2025.

Beyond the technologies themselves, planning and collaboration efforts may also be impacted by the major changes at these agencies. So far, 2025 has been marked by many cancelled or postponed scientific meetings at the FDA and NIH, as well as firings of thousands of workers, including many top-level officials and a large portion of communications roles, and the resignation of Peter Marks, director of Center for Biologics Evaluation and Research.

Rubinsteyn, for his part, worries about how reductions in animal testing requirements will play out in such an environment, raising concerns that insufficient oversight could create opportunities for unscrupulous companies to bring potentially unsafe drugs to market.

“I do think that this is, in principle, a positive direction for change,” he said. But depending on how these changes are implemented, “it could go quite wrong.”

Disclosure of conflicts of interest: Yu Shrike Zhang sits on the scientific advisory board and holds options with Xellar Biosystems.

Comparative Study 

Toxicol Sci

. 2015 Dec;148(2):355-67. doi: 10.1093/toxsci/kfv189. Epub 2015 Oct 5.

Correlation of In Vivo Versus In Vitro Benchmark Doses (BMDs) Derived From Micronucleus Test Data: A Proof of Concept Study

Lya G Soeteman-Hernández 1, Mick D Fellows 2, George E Johnson 3, Wout Slob 1

Affiliations Expand

Abstract

In this study, we explored the applicability of using in vitro micronucleus (MN) data from human lymphoblastoid TK6 cells to derive in vivo genotoxicity potency information. Nineteen chemicals covering a broad spectrum of genotoxic modes of action were tested in an in vitro MN test using TK6 cells using the same study protocol. Several of these chemicals were considered to need metabolic activation, and these were administered in the presence of S9. The Benchmark dose (BMD) approach was applied using the dose-response modeling program PROAST to estimate the genotoxic potency from the in vitro data. The resulting in vitro BMDs were compared with previously derived BMDs from in vivo MN and carcinogenicity studies. A proportional correlation was observed between the BMDs from the in vitro MN and the BMDs from the in vivo MN assays. Further, a clear correlation was found between the BMDs from in vitro MN and the associated BMDs for malignant tumors. Although these results are based on only 19 compounds, they show that genotoxicity potencies estimated from in vitro tests may result in useful information regarding in vivo genotoxic potency, as well as expected cancer potency. Extension of the number of compounds and further investigation of metabolic activation (S9) and of other toxicokinetic factors would be needed to validate our initial conclusions. However, this initial work suggests that this approach could be used for in vitro to in vivo extrapolations which would support the reduction of animals used in research (3Rs: replacement, reduction, and refinement).

Keywords: TK6 cells, benchmark dose 

https://www.drugdiscoverynews.com/why-toxicology-is-still-the-toughest-test-for-nam-adoption-17194

 

Toxicology remains the most challenging field for adopting new approach methodologies (NAMs) as it requires predicting systemic, long-term human health effects that are inherently complex to replicate outside a living organism. While NAMs offer human-relevant data, the industry faces significant hurdles in validating these methods to the same level of trust as traditional animal models.

DDN spoke with Justin Boyd, Product Manager at Sartorius, to explore how NAMs are being applied in practice across drug discovery and safety assessment, and what ultimately determines whether they transition from scientifically compelling tools into routine components of toxicology workflows.

You’ve spent much of your career building biologically relevant cellular models of disease. How does that emphasis on relevance shape how you think about NAMs in toxicology, compared with more traditional animal-based approaches?

I recently joined the vendor side of NAMs. For nearly two decades before that, as a drug hunter, I was less focused on building models and more on applying them. In that context, I thought of NAMs as fit-for-purpose tools to rapidly explore the effects of experimental drugs on the proximal human biology I care about.

Now, as Product Manager of a NAMs portfolio, I still strongly believe in that utility. The strengths of NAMs lie in: (1) conservation of human biology, (2) speed to data-driven decision-making, and (3) cost to execute study. That said, I don’t see NAMs as replacing the value of a whole organism — whether mouse, rat, or non-human primate. A preclinical toxicity study in animals provides a more comprehensive view of how a compound behaves in the context of an intact organism, including systemic interactions that are still not well captured in vitro.

However, NAMs create an opportunity to rank and/or differentiate compounds with higher molecular resolution while remaining “in human.” That kind of insight can meaningfully inform decisions about which compounds are worth advancing into more expensive and time-consuming animal studies.

Ultimately, I think of NAMs for toxicity as key complementary models for evaluating tissue-specific risk to drive decision to go into the animal models, leading to better stewardship of resources for drug discovery and animal welfare.

NAMs are often discussed as ethical or regulatory advances, but from your perspective, where do they most clearly outperform legacy toxicology methods scientifically?

With respect to performance, there are two clear areas where NAMs excel. First, NAMs can recapitulate aspects of human biology more faithfully than preclinical species. This becomes especially important when studying the proximal biology engaged by an experimental drug, where species differences can significantly limit interpretability.

Second, NAMs substantially reduce the time and cost required to reach a decision. From a project or program management perspective, the ability to make informed and confident stage-gate decisions is where the highest value lies. In this context, NAMs enable a more expedient and cost-effective approach to predicting toxicity in the pre-Investigational New Drug (IND) to IND space.

Although, it’s likely that animals will be used at this point, NAMs can and should be deployed to derisk the Good Laboratory Practice (GLP) toxicity studies in animals and potentially reduce the numbers of cohorts and time for treatments.

Many toxicology assays still rely on relatively reductionist systems. How close are we to NAMs that genuinely capture the complexity of chronic diseases like Alzheimer’s or Parkinson’s when it comes to assessing safety?

I think this is a tricky question, and I would start by noting that the complexity of Alzheimer’s (AD) and Parkinson’s disease (PD) pathobiology is part of what limits our ability to clearly distinguish mechanisms that cause disease from those that simply exacerbate progression. As such, “who, when, and how” these diseases are treated and the potential toxicity from treatment remain controversial.

In some cases, NAMs, particularly complex in vitro models with multiple cell types and structures, can recapitulate complex non-cell autonomous biology, such as the impact of inflammation on neuronal health. Moreover, computation-based NAM tools can help predict the trajectory of biology and stratify at-risk populations for toxicity outcomes.

So, when asking how close we are to NAMs that genuinely capture the complexity of chronic diseases like AD and PD, I would say they are, in many ways, as close to recapitulating that complexity as our current understanding allows us to define it.

Drug-induced nephrotoxicity remains a major clinical challenge. From your experience working with human kidney microtissues, why has traditional animal toxicology struggled to predict renal risk in humans?

It sounds cliché, but animals are not humans. In the case of the kidney, there are two key drivers of translational gaps.

First, the expression of key kidney genes and their protein products — particularly those governing transport and metabolism — differs significantly between preclinical species and humans. Second, baseline renal metabolism itself varies across species, further compounding these differences.

Given that the primary function of the kidney is to clear waste, toxins, and excess fluids from the blood, these species-specific differences directly impact our ability to predict nephrotoxicity using traditional animal models.

You’ve worked extensively with 3D human epithelial tissue models. What does moving from 2D cultures to 3D systems fundamentally change in how we understand toxicity mechanisms?

The difference between traditional 2D cultures and 3D systems, in the context of toxicity, is relatively straightforward. By recapitulating tissue structure, 3D models allow us to move beyond simply asking whether a compound is toxic, to understanding where that toxicity occurs and to what extent.

Understanding the relationship between exposure (where a polarized, functional cell sees a compound) and response is uniquely addressed in our systems compared to 2D. This is particularly important in epithelial tissues, where basolateral versus apical exposure can lead to very different toxicity outcomes. In skin, intestine, and lung, for example, cells may be exposed either from the basolateral side via systemic circulation or from the apical side through local administration or environmental contact. That distinction is fundamentally lost in 2D systems.

Do you see NAMs primarily as screening tools, or are they mature enough to inform dose selection, risk stratification, and IND-enabling decisions?

I believe NAMs have always been able to inform dose selection, risk stratification, and IND-enabling decisions. In fact, screening may not be the best deployment of NAMs due to scalability challenges and cost. The appropriateness of a NAM’s utility is dependent upon the limitations of the human biology you can explore within the NAM and the modality of the therapeutic. If the NAM contains the biology that you are targeting and the therapeutic modality is compatible with the model, then the NAM should be appropriate for dose selection, risk stratification and IND decisions.

One advantage you’ve previously highlighted is integrating human tissue models with live-cell analysis. Why is temporal resolution — seeing toxicity unfold in real time — so important?

There is both a practical and a biologically relevant dimension to the importance of temporal resolution in toxicity responses. From a practical standpoint, when developing any assay, identifying the time point at which the signal is maximal is essential for ensuring robustness and is a key part of assay optimization. In the context of toxicity, being able to observe the behavior and toxicity signals over time will enable you to identify the most appropriate time of incubation for maximal signal response.

Biologically, however, toxicity is not a single event — it manifests in different ways depending on mechanism. If you use tool compounds that induce toxicity through different mechanisms, knowing the kinetics of the toxicity response can help resolve whether your assay can distinguish direct and indirect mechanisms leading to toxicity.

In that sense, time to toxicity signal can be as informative as the signal itself, particularly when evaluating unknown compounds. In the context of advanced cell models for toxicity, often the exposure times can be prolonged (days to weeks) to predict clinical outcome.

NAMs can be scientifically compelling but still fail to gain traction. From a product and commercialization standpoint, what determines whether a NAM actually gets embedded into routine toxicology workflows?

This is the $100+ million question. Adoption of any platform is influenced by a range of factors — cost, fit-for-purpose utility, biological relevance, format, and ease of use among them. In practice, different players in the field tend to emphasize the aspects they value most, often based on their own balance of biological relevance versus scalability.

At the moment, traction tends to emerge organically through a “let’s try it and see if it works” approach. This is not unique to NAMs. However, toxicology is a particularly high-bar area, where established gold standards inherently challenge any new model system more than exploratory or discovery settings do. That makes sense: Toxicology groups are ultimately responsible for generating a weight of evidence that supports progression to the clinic.

In that context, NAMs introduce both opportunity and friction. While they offer potentially better predictive insight, they also require additional effort to validate against established approaches — often more effort than is required to continue using what is already accepted. Because of this, I would argue that regulators are the key gatekeepers of NAM adoption in toxicology. Ultimately, they define what is essential versus optional in the data package required to advance into the clinic. In my view, the biggest lever for accelerating adoption is therefore not customer preference, but regulatory acceptance.

What is the incentive to explore better models of toxicology if existing ones are “good enough” to reach regulatory endpoints? We could discuss the ethics and scientific rationale around choosing better, more predictive models. But if NAMs remain encouraged rather than required, it is difficult to expect meaningful acceleration in their uptake. I really hope that regulators recognize that there’s a big difference between accepting NAMs and requiring them. Making NAMs essential for toxicity studies for IND filing would catalyze their adoption far more effectively than incremental product refinement alone.

Download PDF

Add Drug Discovery News as a preferred Google source to see more of our trusted coverage.

About the Author

  • Bree Foster, PhD

  • Bree Foster is a science writer at Drug Discovery News with over 2 years of experience at Technology Networks, Drug Discovery News, and other scientific marketing agencies. She holds a PhD in comparative and functional genomics from the University of Liverpool and enjoys crafting compelling stories for science.

he 90% myth

Posted: by Chris Magee on 9/06/25

More on these Topics:

ANIMAL RIGHTSANIMAL STATISTICSDRUG DEVELOPMENTFACT CHECKMISINFORMATIONMYTHBUSTING

Why do 90% of new drugs fail?

If you’ve read anything on animal testing, you’ll have read something to the effect that ‘more than 90% of drugs tested in animals fail in humans’. Is that some damning indictment of animal models? Absolutely not. Let’s unpack this a bit.

Note: The 90% statistic refers to regulatory safety testing. Other sorts of animal use, like discovering decapod sentience through ‘curiosity-driven’ basic research, will be discussed in another article since the applications are so broad and the application of the research so complex that percentages are usually meaningless. 

Tl;DR:

The drug attrition rate, which isn’t 90%, isn’t due to the use of animals and there’s no such thing as a drug that’s developed and tested using only animals before heading to human trials.

Let’s start at the beginning.

 

How drugs get licensed

In drug trials, all drugs intended for humans are tested on humans: they are tested and refined through three stages of clinical trial before being licensed for public use. Phase 1 of human testing looks primarily at safety, whereas phases 2 and 3 are for safety and then efficacy. Each stage uses more human volunteers than the last and the later stages might include those with a particular medical condition. There is also a post-licensing stage 4, where new treatments are introduced to the wider population, for instance into the clinic by specialist doctors.  

Image: Sanford Health 

Adverse reactions noted after a drug is licensed are fed back to the medicine’s regulator, the Medicines and Healthcare Devices Regulatory Authority (MHRA), which might do things like update the safety information in the booklet that comes with the medicines. Lots of medicines have their safety advice updated as the medicine is used in a greater number of patients.  

This is because drugs are licensed on the grounds of what they do in general, e.g. shrink a tumour or lower blood sugar. However, to what extent they work in an individual will vary greatly depending on dozens of factors from genetics to weight to hormones – even to the time of day. This is why there are specialist doctors for different diseases, as well as GPs, who take a patient-centric perspective on the medical tools available for that person (or animal). Hence, very few medicines are withdrawn – it’s usually a case of finessing the practice and guidance on using them safely and optimally and adapting their use for specific patients. 

 

Preclinical testing

Before drugs can go to human trials, they must pass a standard battery of safety tests using both animal and non-animal methods. These tests tend to be specified by bodies like the OECD (mainly for chemicals) and the International Conference on Harmonisation (mainly for pharmaceuticals), which can pool knowledge about how to use the best methods of safety testing, whatever these may be. 

Non-animal methods of drug testing can perform well but tend to be limited in scope to one organ system or one effect, whereas animal models tend to give a broader picture of how drugs will act in a whole living body and across a dozen organs at once. 

For some applications, non-animal methods are enough to conclude that drug development shouldn’t proceed, and the compound is therefore eliminated before hitting either the human or animal testing stages.  

With those drugs that do proceed, animals are very good at ‘predicting’ if a drug will be ‘safe’ in the first human trials.  

There are different statistical tools that can be used to determine this safety. Bayesian modelling (figure 1 below) can find ‘true positives’ (PPVs) and ‘true negatives’ (NPV) i.e. a percentage certainty that something will be safe in stage 1 human trials. Likelihood ratios (figure 2) offer a probability of safety. 

Bayesian modelling, NPV safety prediction
Organ category  Dog to human   Mouse to human  
Pulmonary  96%  95% 
Biochemical  95%  93% 
Renal  95%  96% 
Ophthalmology  94%  96% 
Haematology  93%  92% 
Cutaneous  91%  82% 
Musculoskeletal  91%  92% 
Cardiovascular  91%  75% 
Nervous system  90%  93% 
Liver  88%  89% 
Gastrointestinal  76%  69%

Figure 1: IQ Consortium translational database 

Likelihood ratios
Pre-test probability  Pre-test odds  Post-test odds  Post-test probability 
10%  0.11  3.16  76% 
20%  0.25  7.11  88% 
30%  0.43  12.18  92% 
40%  0.67  18.95  95% 
50%  1.00  28.43  97% 
60%  1.50  42.65  98% 
70%  2.33  66.34  99% 
80%  4.00  113.72  99% 
90%  9.00  255.87  100% 

Figure 2: Data from https://pubmed.ncbi.nlm.nih.gov/24329742/  

Different species of animal do more or less well at translating to humans depending on the target organs, the type of thing being tested and the size of its molecules. These species differences are well-known, as is the fact that you can increase your certainty that something will be safe or not if a rodent and a non-rodent species both yield similar results. 

Thus, the normal testing regime uses species like rats, plus a non-rodent species, usually a dog or primate. Around three-quarters of tests involve suffering in the mildest category, such as a blood test, with a quarter in the moderate category and very few in severe. This is because most of the information about the possible dangers of a new drug comes from a post-mortem of the animal that reveals changes to the internal organs and tissues, rather than observing whether a live animal gets sick or not. 

The fact that animals are good predictors of safety in humans is important because 40% of potential new drugs are ultimately removed due to failing these pre-human tests. This means that 40% of possible new drugs would have killed or seriously injured humans in phase 1 trials without the pre-human tests (which would be about 900 people a year in the UK).  

 

Preclinical results shape the human trial

But this is not the whole picture. The preclinical tests of all descriptions, including effects seen in animals, human cells, tissue samples and more, help to inform the design of human clinical trials in the first place. For instance, one or several of the tests might hint at potential issues with the liver, so extra measures can be taken to minimise that risk during the human trial. 

All drugs have potential side effects, and their use is always a balance of risk vs potential benefit for the individual patient. All of this means that a large number of drugs proceed to human trials as ‘safe enough to try’ but with a question mark over whether their risks will be manageable or not.  

An example of this management is paracetamol, which works better as a painkiller if taken regularly every 4-6 hours to allow it to build up in the tissues and bloodstream. However, we all know not to take a day’s dose all at once. 

 

So, what of the 90%? 

Drugs ‘fail’ at every stage of development and for several reasons. For every 100 possible drugs that even get to the animal testing stage, some 5,000 other compounds have already been eliminated. Drugs continue to be removed all the way through human testing too, in ever smaller numbers as we zero in on something that’s going to work. 

Percentages thus become less and less helpful for understanding what is happening. Having eliminated 5,000 candidates, for instance, we can be left with 10. If three of those 10 fails, then that’s 30%, which sounds massive, but it’s only 0.06% of the huge pile of 5,000 possible drugs we started with. 

In the same way, the 90% statistic is easy to misunderstand. 

As we’ve seen, 40% of possible drugs are removed as dangerous by the pre-human safety tests that are mainly in animals. The 90% that ‘fail’, then, is 90% of the 60% that pass preclinical trials. Also, by ‘failure’ it means to have failed for the purpose intended – many drugs can later be repurposed even if they fail in their intended application. 

What all this means is, for every 100 potential new drugs at the start of the process, 6 will become drugs in the pharmacy, 40 will be removed by preclinical tests and 54 will be removed for other reasons. 

Exactly what those reasons are is the critical point. 

Of those 54: 

  • C40-50% (26 drugs) will not be effective at the safe dose (something the animal test isn’t looking for); 
  • C25-30% (15 drugs) suspected or known toxicities cannot be managed; 
  • C10-15% (8 drugs) don’t absorb into the body or get to their target organ properly; and 
  • c10% (5 drugs) fail due to a lack of commercial need or misplaced strategic planning. 

In this way, lots of drugs fail to make it to the chemists’ shelves, but this has very little to do with the efficacy of the animal model as a safety screen for stage 1 clinical trials. Animals do that job very well.

What is exciting about new approaches – whether they use animals or not – is that they may be able to chip away at the other reasons for failure (more on this later).

 

Different targets have different success rates

One other complication is that ‘failure’ rates are not uniform.

Currently, translation from preclinical findings to clinical success varies a lot depending on the disease area. Eye treatments are about 35% successful, vaccines are about 40%. The most complex diseases of the most complex organs have, as you’d expect, a much higher failure rate which skews the averages and gives you this slightly bogus 90% figure by some methods of counting. However, there is no evidence that implicates animal models as the major reason for failure. In fact, researchers who found a c95% drug attrition rate also found that 86% of positive results in animals translated into positive results in humans.

This accords perfectly with the IQ Consortium translation database, of animal to human translation, recreated as a table in figure 1 above, which also averages out at 86%  

 

So, where do NAMs fit in?

The term ‘New Approach Methodologies‘ refers to the subset of non-animal technologies concerned with regulatory testing – i.e. the tests required by governments. Non-animal technologies have been in development and used in drug testing since the early 1970s, being applied alongside animal models to try to design better drugs, better clinical trials and spot potentially dangerous compounds. They have a more limited range of applications than a whole-body system, but can nevertheless be a quick, cheap and useful way of spotting red flags or pointing to a way forward. They are a standard part of the toolkit for drug testing, with their use accelerating exponentially in the past 20 years as technology improves. We have ever-better non-animal tests, which are still limited but can tell us enough in some cases to guide a decision on what compounds to try to turn into medicines. 

 

Organs on chips

Some of these techniques are relatively new approaches like organ-on-a-chip technologies. First conceived in the late 1990s, the first successful chip was developed in 2010. These devices, roughly the size of an AA battery, are made from a flexible, translucent polymer. Inside are tiny tubes, each less than a millimetre in diameter, lined with living cells taken from a particular human or animal organ. 

These can spot toxicities ranging from liver issues with new drugs to the effects on animals of industrial chemicals. They can be used early to avoid animal use and some emerging technologies could prevent up to 10% of drugs that would ultimately fail from entering animal trials in the first place. In a study completed in late 2022, for instance, liver chips identified compounds that were deemed safe enough to try by animal models, but would ultimately harm humans in wider testing, with 87% accuracy.  

That doesn’t mean it can spot 87% of drug toxicities, but 87% of those that would have failed later and specifically for liver-related safety reasons. Given that 40% of compounds are removed prior to human testing, 30% later fail due to unmanageable toxicity and 30% of those do so due to effects on the liver, using this test routinely would help to reduce the number of drugs that later failed human trials for unmanageable toxicity by around a third, or 4-5 drugs for every 100 entering testing. 

However, if also used early in the drug testing process they might also spot toxicities that would previously have needed an animal to detect, and this might be enough to halt testing. Liver toxicity is the reason for 14% of failures during preclinical tests so this would amount to a further 5 compounds per 100 that would not progress to the animal stage. As you can see from liver chip vendor Emulate’s own graphic, their chip reduces animal use, and is applied before animal trials. There would still, by their model, be an 82% failure rate and, of course, most drugs don’t fail for liver-related reasons.

Source: https://emulatebio.com/toxicology/

The UK authorises around 35 new drugs for use each year, yet for every drug approved another 9 fail, which would be around 315 trials, some 10% of which could be halted before hitting the animal or human stage, potentially preventing thousands of research animals from being born. This would undoubtedly save pharma companies money since human trials get more expensive the more they progress – from $ 25 million in Phase 1 to $ 54 million in Phase 3. 

The UK’s national centre for Refining, Reducing or Replacing animal use has a project to replace ‘second species’ animals like dogs and primates with computer models that have passed its proof-of-principle stage and are well into development, albeit with another three years of development left to run.

Even if this doesn’t work, it will tell us what we need to do to get it to work. As Jonas Salk, who used primates to create a polio vaccine, once said “There is no such thing as a failed experiment because learning what doesn’t work is a necessary step to learning what does.”  

 

New targets

Animal numbers will inevitably continue their steady march, with an occasional lurch, downward in terms of numbers, but it’s important to understand how all this fits together. Whilst it’s very easy to predict the future in general terms – clean energy, personalised medicine, healthier food – actually getting there is a bit of a slog. 

The other big reason for drug failure beyond the liver, for instance, is Torsades de Pointes. French for “twisting of the points” it’s a dangerous heart arrhythmia that’s the reason for a very similar proportion of preclinical and clinical failures as liver problems. It makes heart chips the next big target for validation, with sincere hopes that they can be made to work as well as liver chips. 

However, this is the low-hanging fruit on offer in terms of organ chips, with diminishing returns as the targets get harder, and the target systems get more complicated. A test for the heart or a kidney is one thing, a test for the Central Nervous System is quite another. In addition, heart arrhythmia and liver issues are the biggest single areas of failure for safety reasons, but the remaining 40% of reasons affect many other organs, each of which will need its own new animal or non-animal testing strategy. 

 

Where next? 

There is no one approach, then, that will create a revolution. We need new approaches, and we need new improvements to old approaches. My latest laptop, for instance, isn’t conceptually different from the first laptop I owned but it’s a lot lighter and faster due to hundreds of innovations across all of its components. Improvements to clinical outcomes will come from organ chips, big data and AI, but also from higher standards of scientific rigour, new animal models, more powerful technology and the synergies that arise from using it all together. 

Happily, there are very few regulatory barriers to adopting new non-animal technologies, the ethical framework for using new animal models is well-understood and nobody is opposed to using non-animal methods over animals. In addition, whatever the costs of failure during clinical trials, the cost of preclinical R&D and discovery clocks in at $403 million, making it easily the most expensive single stage in the drug development process. Hence, the greatest savings in cost or animal use associated with improvements in technology may have nothing to do with the requirements of the regulator and can be implemented as soon as new technologies mature. 

We do need to accelerate the validation of new animal and non-animal methods now that they’re emerging with rapidly increasing frequency. The OECD, the international association for sharing solutions to common problems, is the curator of scientific guidelines for the testing of chemicals. It makes the point that resources should be made available to test the reproducibility and reliability of new methods developed by single labs so that, if they work, they can be applied more widely, and more quickly. Inherent to their thinking is a bias against animal use. 

We also need to make sure that politicians aren’t distracted by ideological sideshows or lured towards counterproductive policy directions, like deadlines that amount to deregulation of harmful industries. whose products are only harmful when metabolised in a whole body. There are concrete measures that governments, or prospective governments, could be proposing but politicians of all stripes need to understand where to apply funding and focus to have a positive impact on man, animals and the environment. 

https://www.understandinganimalresearch.org.uk/news/the-90-myth

 

Read Full Post »

FDA Moves Forward With Its Guidance Framework for Rare Disease Trials: 2026

Reporter: Stephen J. Williams, Ph,D.

In 2025, the Trump Administration had determined it wants to streamline the FDA and clinical trials in order to expedite much needed drugs for various terminal diseases such as cancer and rare childhood diseases.  In 2026, under the guidance of the new FDA commissioner, Dr. Makary, the FDA initiated guidance for the proposed changes in February and available for comments at that time.  This has been a growing discussion aver the years and the FDA wanted, for many years, to figure out they could speed bringing new therapies to market, especially for terminally  ill patients. Given the progress of biomarkers development early in the drug discovery process and new computational technologies, the time seems to be ready for such changes in trial design and even for the long drug development process.  In addition the FDA up to this point was focused on other matters so it wasn’t really at the forefront of their to do list.

From: https://www.fda.gov/news-events/press-announcements/fda-launches-framework-accelerating-development-individualized-therapies-ultra-rare-diseases

FDA Launches Framework for Accelerating Development of Individualized Therapies for Ultra-Rare Diseases

For Immediate Release:

The U.S. Food and Drug Administration today issued draft guidance for sponsors seeking approval for targeted individualized therapies by generating substantial evidence of effectiveness and safety when randomized controlled trials are not feasible due to small patient populations.

The draft guidance, issued by the Center for Biologics Evaluation and Research and Center for Drug Evaluation and Research, specifically discusses genome editing and RNA-based therapies such as antisense oligonucleotides but leaves open the potential that this framework may apply to additional tailored therapeutics provided they directly address the underlying specific cause of the disease.

“President Trump promised to accelerate cures for American families — and we are delivering, especially for children with ultra-rare diseases who cannot afford to wait,” said Health and Human Services Secretary Robert F. Kennedy, Jr. “We are cutting unnecessary red tape, aligning regulation with modern biology, and clearing a path for breakthrough treatments to reach the patients who need them most.”

“This guidance is a critical step the FDA is taking to tailor our regulatory approach to patients with ultra-rare conditions,” said FDA Commissioner Marty Makary, MD, MPH. “It is our priority to remove barriers and exercise regulatory flexibility to encourage scientific advances and deliver more cures and meaningful treatments for patients suffering from rare diseases.”

The draft guidance focuses on therapies that target a specific genetic, cellular or molecular abnormality and are designed to correct or modify the underlying cause of disease. Key criteria include:

  • Identifying the disease-causing abnormality.
  • Demonstrating the therapy targets the root cause or proximate biological pathway.
  • Relying on well-characterized natural history data in untreated patients.
  • Confirming successful target drugging or editing.
  • For traditional approval, therapies should demonstrate improvement in clinical outcomes, disease course, or biomarkers if they are established to predict clinical benefit.

“Designing treatments unique to individual patients has always been the promised goal of personalized medicine,” said Chief Medical and Scientific Officer and Center for Biologics Evaluation and Research Director Vinay Prasad, MD, MPH. “After 25 years the FDA has, for the first time, outlined a framework to facilitate these approvals. The Plausible Mechanism Framework is a revolutionary advance in regulatory science.”

“The Plausible Mechanism draft guidance creates a novel framework through which cutting-edge treatments tailor-made for patients with ultra-rare diseases can be used as a basis for FDA approval,” said Center for Drug Evaluation and Research Acting Director Tracy Beth Høeg, MD, Ph.D. “We anticipate our Plausible Mechanism draft guidance will inspire industry to place increased focus on individualized therapies, thereby driving innovation, improving safety, lowering costs and offering more patients with ultra-rare diseases a unique shot at a life-saving treatment.”

Because genome editing technologies are designed to be highly specific to unique DNA sequences, a product targeting different mutations in a single gene could be included in a single product application and potentially evaluated through the use of master protocols that evaluate these product variations in a single trial. A highly supported “plausible” mechanism of action may then be used to support the addition of other such genome editing product variants, intended to treat patients with mutations that were not included in the clinical trial used to support the original approval.

The FDA recognizes that an adequate and well-controlled clinical investigation in this context will include a small sample size, therefore, investigation results should be sufficiently robust to exclude chance findings. When determining effectiveness, the FDA considers the specific disease, the strength of the evidence and the challenges of conducting clinical investigations for individualized therapies.

 

In June of 2026, the FDA formalized their discussion into guidelines for discussion so it appears the following are not set into register of regulations as of yet.

From https://www.fda.gov/drugs/guidances-drugs/guidance-documents-rare-disease-drug-development

Guidance Documents for Rare Disease Drug Development

In general, FDA’s guidance documents do not establish legally enforceable responsibilities. Instead, guidances describe the agency’s current thinking on a topic and should be viewed only as recommendations, unless specific regulatory or statutory requirements are cited. The use of the word should in agency guidances means that something is suggested or recommended, but not required.

Below are selected guidances that are relevant to rare disease drug development, organized by topic. This list does not include all FDA guidances on or relevant to rare disease drug development but represents our most commonly used guidances. This list may be updated periodically.

I have kept the original text in order for reference and to provide the background for these changes “in their words”.

However there are a few themes in these guideline changes and discussions including:

  • definitions of rare diseases
  • reduction of complexities and simplification of trial design and requirements (the FDA wants to go to a more ONE trial with very well designed controls than the two trial design for INDs (I will discuss this further in a near future post)
  • accelerated approval which will entail streamlining both the submission and approval process for rare conditions
  • heavy reliance on biomarkers during drug development and clinical trials (which is already in frequent use in pharma)
  • early communication with the FDA
  • more reliance on plausible mechanism of action to reduce number of studies needed

Rare Disease

Considerations for the use of the Plausible Mechanism Framework to Develop Individualized Therapies that Target Specific Genetic Conditions with Known Biological Cause
The purpose of this guidance is to describe considerations for generating substantial evidence of effectiveness and evidence of safety for individualized therapies based on a plausible mechanism framework.

Rare Diseases: Considerations for the Development of Drugs and Biological Products
This guidance clarifies FDA’s thinking on important considerations in rare disease drug development to ultimately assist rare disease drug and biologic product developers in conducting successful drug development programs.

Rare Diseases: Natural History Studies for Drug Development: Draft Guidance for Industry
FDA is publishing this draft guidance to help inform the design and implementation of natural history studies that can be used to support the development of safe and effective drugs and biological products for rare diseases. A natural history study collects information about the natural history of a disease in the absence of an intervention, from the disease’s onset until either its resolution or the individual’s death. Although knowledge of a disease’s natural history can benefit drug development for many disorders and conditions, natural history information is usually not available or is incomplete for most rare diseases; therefore, natural history information is particularly needed for these diseases.

Rare Pediatric Disease Priority Review Vouchers
This guidance provides information on the implementation of section 908 of the Food and Drug Administration Safety and Innovation Act (FDASIA), which added section 529 to the Federal Food, Drug, and Cosmetic Act (the FD&C Act). Under section 529, FDA will award priority review vouchers to sponsors of certain rare pediatric disease product applications that meet the criteria specified in that section.

Rare Diseases: Early Drug Development and the Role of Pre-IND Meetings : Draft Guidance for Industry
The purpose of this draft guidance is to assist sponsors of drug and biological products for the treatment of rare diseases in planning and conducting more efficient and productive pre-investigational new drug application (pre-IND) meetings. Drug development for rare diseases has many challenges related to the nature of these diseases. This draft guidance is intended to advance and facilitate the development of drugs and biological products for the treatment of rare diseases.

Slowly Progressive, Low-Prevalence Rare Diseases with Substrate Deposition That Results from Single Enzyme Defects: Providing Evidence of Effectiveness for Replacement or Corrective Therapies : Guidance for Industry
This document provides guidance to sponsors on the evidence necessary to demonstrate the effectiveness of investigational new drugs or new drug uses intended for slowly progressive, low-prevalence rare diseases that are associated with substrate deposition and are caused by single enzyme defects. This guidance applies only to those low-prevalence rare diseases with well-characterized pathophysiology, and in which changes in substrate deposition can be readily measured in relevant tissue or tissues.

Pediatric Rare Diseases–A Collaborative Approach for Drug Development Using Gaucher Disease as a Model : Draft Guidance for Industry
The purpose of this guidance is to facilitate drug development in pediatric rare diseases. In particular, it discusses a new possible approach to enhance the efficiency of drug development in pediatric rare diseases using Gaucher disease as an example.

Inborn Errors of Metabolism That Use Dietary Management: Considerations for Optimizing and Standardizing Diet in Clinical Trials for Drug Product Development: Guidance for Industry
This guidance describes the Food and Drug Administration’s (FDA’s) current recommendations regarding how to optimize and standardize dietary management in clinical trials for the development of drugs that treat inborn errors of metabolism (IEM) for which dietary management is a key component of patients’ metabolic control. Optimizing dietary management in these patients before entry into and during clinical trials is essential to providing an accurate evaluation of the efficacy of new drug products.

Accelerated Approval

Accelerated Approval and Considerations for Determining Whether a Confirmatory Trial is Underway
For drugs granted accelerated approval, sponsors have been required to conduct confirmatory studies postapproval to verify and describe the anticipated effect on irreversible morbidity or mortality or other clinical benefit. In the Consolidated Appropriations Act, 2023 (CAA), Congress amended section 506(c) of the FD&C Act (21 U.S.C. 356(c)), to provide additional authorities to help ensure timely completion of such trials, including that FDA “may require, as appropriate, a study or studies to be underway prior to approval, or within a specified time period after the date of approval, of the applicable product.” This draft guidance, when finalized, will describe FDA’s interpretation of the term “underway” and policies for implementing this requirement, including factors FDA intends to consider when determining whether a confirmatory trial is underway prior to an accelerated approval action.

Accelerated Approval – Expedited Program for Serious Conditions
Accelerated approval is one of FDA’s expedited programs intended to facilitate and expedite development and review of new drugs to address an unmet medical need in the treatment of a serious or life-threatening condition. The purpose of this guidance is to provide information on FDA’s policies and procedures for accelerated approval as well as threshold criteria generally applicable to concluding that a drug is a candidate for accelerated approval. This guidance also describes the procedures for expedited withdrawal of approval of a product approved under accelerated approval and the revisions Congress made through the Consolidated Appropriations Act, 2023 (Public Law 117-328). Additional programs to expedite product development and review are covered in other guidances.

Benefit-Risk

Benefit-Risk Assessment for New Drug and Biological Products
The intent of this guidance is to clarify for drug sponsors and other stakeholders how considerations about a drug’s benefits, risks, and risk management options factor into certain premarket and postmarket regulatory decisions that the Food and Drug Administration (FDA or Agency) makes about new drug applications (NDAs) submitted under section 505(c) of the Federal Food, Drug, and Cosmetic Act (FD&C Act) as well as biologics license applications (BLAs) submitted under section 351(a) of the Public Health Service Act (PHS Act).

Biomarkers

For general information on Biomarkers, please see About Biomarkers and Qualification

Biomarker Qualification: Evidentiary Framework
This draft guidance provides recommendations on general considerations to address when developing a biomarker for qualification under the 21st Century Cures Act (Cures Act), enacted on December 13, 2016, that added a new section to the Federal Food, Drug, and Cosmetic Act (FD&C Act). Qualification of a biomarker is a determination that within the stated context of use, the biomarker can be relied on to have a specific interpretation and application in drug development and regulatory review.

Qualification Process for Drug Development Tools
This guidance describes the qualification process for drug development tools (DDTs) intended for potential use, over time, in multiple drug development programs.

Clinical Outcome Assessments (COAs) and Endpoints

For information on the COA Qualification Program, please see Clinical Outcome Assessment (COA) Qualification Program

Patient-Focused Drug Development: Selecting, Developing, or Modifying Fit-for-Purpose Clinical Outcome Assessments
This guidance (Guidance 3) is the third in a series of four methodological patient-focused drug development (PFDD) guidance documents that describe how stakeholders (patients, caregivers, researchers, medical product developers, and others) can collect and submit patient experience data and other relevant information from patients and caregivers to be used for medical product development and regulatory decision-making.

Patient-Focused Drug Development: Incorporating Clinical Outcome Assessments Into Endpoints for Regulatory Decision-Making
This guidance (Guidance 4) is the fourth in a series of four methodological patient-focused drug development (PFDD) guidance documents that describe how stakeholders (patients, caregivers, researchers, medical product developers, and others) can collect and submit patient experience data and other relevant information from patients and caregivers to be used for medical product development and regulatory decision-making.

Multiple Endpoints in Clinical Trials Guidance for Industry
This guidance provides sponsors and review staff with the Agency’s thinking about the problems posed by multiple endpoints in the analysis and interpretation of study results and how these problems can be managed in clinical trials for human drugs, including drugs subject to licensing as biological products.

Clinical Pharmacology

Exposure-Response Relationships — Study Design, Data Analysis, and Regulatory Applications 
This document provides recommendations for sponsors of investigational new drugs (INDs) and applicants submitting new drug applications (NDAs) or biologics license applications (BLAs) on the use of exposure-response information in the development of drugs, including therapeutic biologics. It can be considered along with the International Conference on Harmonisation (ICH) E4 guidance on Dose-Response Information to Support Drug Registration and other pertinent guidances (see Appendix A).

Bioavailability Studies Submitted in NDAs or INDs – General Considerations
This guidance provides recommendations to sponsors and applicants submitting bioavailability (BA) information for drug products in investigational new drug applications (INDs), new drug applications (NDAs), and NDA supplements. This guidance contains recommendations on how to meet the BA requirements set forth in 21 CFR part 320 as they apply to dosage forms intended for oral administration.

General Clinical Pharmacology Considerations for Pediatric Studies of Drugs, Including Biological Products
This guidance assists sponsors of investigational new drug applications (INDs) and applicants of new drug applications (NDAs) under section 505 of the Federal Food, Drug, and Cosmetic Act (the FD&C Act), biologics license applications (BLAs) under section 351(a) of the Public Health Service Act (PHS Act), and supplements to such applications who are planning to conduct clinical studies in pediatric populations.

General Clinical Pharmacology Considerations for Neonatal Studies for Drugs and Biological Products Guidance for Industry
This guidance is intended to assist sponsors of investigational new drug applications (INDs) and applicants of new drug applications (NDAs), biologics license applications (BLAs), and supplements to such applications who are planning to conduct clinical studies in neonatal populations. This guidance provides recommendations for neonatal clinical pharmacology studies, whether the studies are conducted pursuant to section 505A of the Federal Food, Drug, and Cosmetic Act (FD&C Act), section 505B of the FD&C Act, or neither.

Assessing the Effects of Food on Drugs in INDs and NDAs – Clinical Pharmacology Considerations
This guidance provides recommendations to sponsors planning to conduct food-effect (FE) studies for orally administered drug products under investigational new drug applications (INDs) to support new drug applications (NDAs) and supplements to these applications for drugs being developed under section 505 of the Federal Food, Drug, and Cosmetic Act (21 U.S.C. 355).

Population Pharmacokinetics
This guidance is intended to assist sponsors and applicants of new drug applications (NDAs), biologics license applications (BLAs), abbreviated new drug applications (ANDAs), and investigational new drugs (IND) applications in the application of population pharmacokinetic (PK) analysis.

Clinical Pharmacology Considerations for Antibody-Drug Conjugates Guidance for Industry
This guidance provides recommendations to assist industry and other parties involved in the development of antibody-drug conjugates (ADCs) with a cytotoxic small molecule drug or payload. Specifically, this guidance addresses the FDA’s current thinking regarding clinical pharmacology considerations and recommendations for ADC development programs, including bioanalytical methods, dosing strategies, dose- and exposure-response analysis, intrinsic factors, QTc assessments, immunogenicity, and drug-drug interactions (DDIs).

Drug-Drug Interaction Assessment for Therapeutic Proteins Guidance for Industry
The purpose of this guidance is to help sponsors of investigational new drug applications (INDs) and applicants of biologic license applications (BLAs) determine the need for drug-drug interaction (DDI) studies for a therapeutic protein (TP) by providing a systematic, risk-based approach.

Developing Targeted Therapies in Low-Frequency Molecular Subsets of a Disease
The pharmacological effect of a targeted therapy is often related to a particular molecular alteration, and many diseases are caused by a range of different molecular alterations (some of which may be rare). Therefore, a targeted therapy may have differential effects among patients with the same disease who have different molecular alterations. The purpose of this guidance is to describe general approaches to evaluating the benefits and risks of targeted therapeutics within a clinically defined disease where some molecular alterations may occur at low frequencies.

Clinical Pharmacogenomics: Premarket Evaluation in Early-Phase Clinical Studies and Recommendations for Labeling
This guidance is intended to assist the pharmaceutical industry and other investigators engaged in new drug development in evaluating how variations in the human genome, specifically DNA sequence variants, could affect a drug’s pharmacokinetics (PK), pharmacodynamics (PD), efficacy, or safety. The guidance provides recommendations on when and how genomic information should be considered to address questions arising during drug development and regulatory review.

Clinical Trials

All clinical trials guidances are listed here.

Enhancing Participation in Clinical Trials — Eligibility Criteria, Enrollment Practices, and Trial Designs
This guidance recommends approaches that sponsors of clinical trials intended to support a new drug application or a biologics license application can take to increase enrollment of a representative population in their clinical trials. This guidance considers both demographic characteristics of study populations (e.g., sex, race, ethnicity, age, location of residency) and non-demographic characteristics of populations (e.g., patients with organ dysfunction, comorbid conditions, disabilities, those at the extremes of the weight range, and populations with diseases or conditions with low prevalence). Enrolling participants with a wide range of baseline characteristics may create a study population that more accurately reflects the patients likely to take the drug if it is approved and allow assessment of the impact of those characteristics on the safety and effectiveness of the study drug.

E8(R1) General Considerations for Clinical Studies
This guidance describes internationally accepted principles and practices in the design and conduct of clinical studies of drug and biological products. The guidance is intended to assist sponsors and other parties that design clinical studies, and to promote the quality of the studies submitted to regulatory authorities, while allowing for flexibility.

Multiple Endpoints in Clinical Trials Guidance for Industry
The purpose of this guidance is to describe various strategies for grouping and ordering endpoints for analysis and applying some well-recognized statistical methods for managing multiplicity within a study in order to control the chance of making erroneous conclusions about a drug’s effects. Basing a conclusion on an analysis where the risk of false conclusions has not been appropriately controlled can lead to false or misleading representations regarding a drug’s effects.

E17 General Principles for Planning and Design of Multi-Regional Clinical Trial
With the increasing globalization of drug development, it has become important that data from multiregional clinical trials (MRCTs) can be accepted by regulatory authorities across regions and countries as the primary source of evidence to support marketing approval of drugs (medicinal products). The purpose of this guidance is to describe general principles for the planning and design of MRCTs with the aim of increasing the acceptability of MRCTs in global regulatory submissions.

Decentralized Clinical Trials for Drugs, Biological Products, and Devices
This draft guidance provides recommendations for sponsors, investigators, and other stakeholders regarding the implementation of decentralized clinical trials (DCTs) for drugs, biological products, and devices. In this guidance, a DCT refers to a clinical trial where some or all of the trial-related activities occur at locations other than traditional clinical trial sites.

Enrichment Strategies for Clinical Trials to Support Approval of Human Drugs and Biological Products: Guidance for Industry
The purpose of this guidance is to assist industry in developing enrichment strategies that can be used in clinical investigations intended to demonstrate effectiveness (and in some cases safety) of human drugs and biological products. This guidance defines several types of enrichment strategies, provides examples of potential clinical trial designs, and discusses potential regulatory considerations when using enrichment strategies in clinical trials.

Ethical Considerations for Clinical Investigations of Medical Products Involving Children
Clinical investigations in children are essential for obtaining data on the safety and effectiveness of drugs, biological products, and medical devices in children and to protect children from the risks associated with exposure to medical products that may be unsafe or ineffective. Children are a vulnerable population who cannot consent for themselves and who therefore are afforded additional safeguards when participating in a clinical investigation. Such safeguards are an essential requirement for the initiation and conduct of pediatric investigations as part of a medical product development program.

Master Protocols for Drug and Biological Product Development
This guidance document provides recommendations on the design and analysis of trials conducted under a master protocol as well as guidance on the submission of documentation to support regulatory review.

There are some other Guidances which were issued and I will discuss them in another post.  These include Guidances on minimizing use of animals for preclinical toxicology, Innovative clinical trial design especially for gene and cell therapies, and use of AI in designing of clinical trials.

For more information go to the FDA website at : https://www.fda.gov/drugs/guidances-drugs/guidance-documents-rare-disease-drug-development

Other Articles on FDA Guidances on this Open Access Scientific Journal Include:

FDA Guidance on Use of Xenotransplanted Products in Human: Implications in 3D Printing

FDA Guidance Documents Update Nov. 2015 on Devices, Animal Studies, Gene Therapy, Liposomes

FDA Cellular & Gene Therapy Guidances: Implications for CRSPR/Cas9 Trials 

New FDA Draft Guidance On Homologous Use of Human Cells, Tissues, and Cellular and Tissue-Based Products – Implications for 3D BioPrinting of Regenerative Tissue

FDA Guidelines For Developmental and Reproductive Toxicology (DART) Studies for Small Molecules

 

Read Full Post »

Some Recent Challenging News from Gene Therapy Companies: Sarepta’s Gene Therapy Halted by FDA, Spark Therapeutics Program Gets a Realignment and  Review from Roche

 

Curator: Stephen J.Williams,  Ph.D.

 

Sarepta Therapeutics has received a order from the FDA to halt clinical trials on its Duchenne Muscular Dystrophy gene therapy Elevidys on July 18, 2025 following three deaths.

 

From FDA: https://www.fda.gov/news-events/press-announcements/fda-requests-sarepta-therapeutics-suspend-distribution-elevidys-and-places-clinical-trials-hold 

 

FDA Requests Sarepta Therapeutics Suspend Distribution of Elevidys and Places Clinical Trials on Hold for Multiple Gene Therapy Products Following 3 Deaths

 

For Immediate Release:

July 18, 2025

The U.S. Food and Drug Administration today announced it has placed Sarepta Therapeutics investigational gene therapy clinical trials for limb girdle muscular dystrophy on clinical hold following three deaths potentially related to these products and new safety concerns that the study participants are or would be exposed to an unreasonable and significant risk of illness or injury. The FDA has also revoked Sarepta’s platform technology designation.

The FDA leadership also met with Sarepta Therapeutics and requested it voluntarily stop all shipments of Elevidys today. The company refused to do so.  

“Today, we’ve shown that this FDA takes swift action when patient safety is at risk.” said FDA Commissioner Marty Makary, M.D., M.P.H. “We believe in access to drugs for unmet medical needs but are not afraid to take immediate action when a serious safety signal emerges.”

The three deaths appear to have been a result of acute liver failure in individuals treated with Elevidys or investigational gene therapy using the same AAVrh74 serotype that is used in Elevidys. One of the fatalities occurred during a clinical trial conducted under an investigational new drug application for the treatment of Limb Girdle Muscular Dystrophy.

“Protecting patient safety is our highest priority, and the FDA will not allow products whose harms are greater than benefits. The FDA will halt any clinical trial of an investigational product if clinical trial participants would be exposed to an unreasonable and significant risk of illness or injury,” said Director of the FDA’s Center for Biologics Evaluation and Research Vinay Prasad, M.D., M.P.H.

Elevidys is an adeno-associated virus vector-based gene therapy using Sarepta Therapeutics, Inc.’s AAVrh74 Platform Technology for the treatment of Duchenne muscular dystrophy (DMD). It is designed to deliver into the body a gene that leads to production of Elevidys micro-dystrophin, a shortened protein (138 kDa, compared to the 427 kDa dystrophin protein of normal muscle cells) that contains selected domains of the dystrophin protein present in normal muscle cells. The product is administered as a single intravenous dose.

Duchenne muscular dystrophy is a rare and serious genetic condition which worsens over time, leading to weakness and wasting away of the body’s muscles. The disease occurs due to a defective gene that results in abnormalities in, or absence of, dystrophin, a protein that helps keep the body’s muscle cells intact.

Further, today, the FDA revoked the platform technology designation for Sarepta’s AAVrh74 Platform Technology because, among other things, given the new safety information, the preliminary evidence is insufficient to demonstrate that AAVrh74 Platform Technology has the potential to be incorporated in, or utilized by, more than one drug without an adverse effect on safety.

Elevidys received traditional approval for use in ambulatory DMD patients 4 years of age and older with a confirmed mutation in the DMD gene on June 20, 2024. It was approved for non-ambulatory patients on June 22, 2023 under the accelerated approval pathway. This pathway can allow earlier approval based on an effect on a surrogate endpoint or intermediate clinical endpoint that is reasonably likely to predict clinical benefit, while the company conducts confirmatory studies to verify the predicted clinical benefit. Continued approval for non-ambulatory patients is contingent upon verification and description of clinical benefit in a confirmatory trial. Given the new safety information, The FDA has notified the company that the indication should be restricted to use in ambulatory patients. The FDA is committed to further investigating the safety of the product in ambulatory patients and will take additional steps to protect patients as needed.

 

On July 18 Sarepta appeared to be disregarding the FDA release (according to the New York Times)

 

Source: https://www.nytimes.com/2025/07/18/health/fda-sarepta-elevidys-duchenne.html 

 

Published July 18, 2025 

 

In a remarkable public dispute between drugmaker and regulator, the biotech company Sarepta Therapeutics is defying the Food and Drug Administration’s request that it halt distribution of its treatment for a deadly muscle-wasting disease.

In a news release on Friday evening, the agency said that it requested that the company voluntarily stop all shipments of the therapy, known as Elevidys, citing the deaths of three patients from liver failure who had taken the product or a similar therapy.

In its own news release later on Friday evening, Sarepta, which is based in Cambridge, Mass., said that it would continue to ship the treatment for patients who do not use wheelchairs. The company said its analysis showed no new safety problems in those patients and that it was committed to patient safety.

Dr. Marty Makary, the F.D.A. commissioner, said in the agency’s statement that its request to Sarepta demonstrated that the F.D.A. “takes swift action when patient safety is at risk.”

“We believe in access to drugs for unmet medical needs but are not afraid to take immediate action when a serious safety signal emerges,” he said.

In the past, the F.D.A. has sometimes asked companies to pause distribution of a drug until a new problem is better understood and mitigated. However, it can also press its case, and begin a process to revoke the drug’s license, which would begin with a formal notification and opportunity to respond and participate in a public hearing.

 

On July 21, 2025 Sarepta announces on their website in press release

 

Sarepta Therapeutics Announces Voluntary Pause of ELEVIDYS Shipments in the U.S.

07/21/25 7:40 PM EDT

CAMBRIDGE, Mass.–(BUSINESS WIRE)–Jul. 21, 2025– Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today issued the following statement:

Today, Sarepta Therapeutics notified the U.S. Food and Drug Administration (FDA) of its decision to voluntarily and temporarily pause all shipments of ELEVIDYS (delandistrogene moxeparvovec) for Duchenne muscular dystrophy in the United States, effective close of business Tuesday, July 22, 2025.

This proactive step will allow Sarepta the necessary time to respond to any requests for information and allow Sarepta and FDA to complete the ELEVIDYS safety labeling supplement process. The Company looks forward to a collaborative, science-driven review process and dialogue with the FDA.

“As a patient-centric organization, the decision to voluntarily and temporarily pause shipments of ELEVIDYS was a painful one, as individuals with Duchenne are losing muscle daily and in need of disease-modifying options,” said Doug Ingram, chief executive officer, Sarepta. “It is important for the patients we serve that Sarepta maintains a productive and positive working relationship with FDA, and it became obvious that maintaining that productive working relationship required this temporary suspension while we address any questions that FDA may have and complete the ELEVIDYS label supplement process.”

Sarepta remains committed to transparency and patient safety and will continue to provide timely updates to patients, families, healthcare providers, and the broader Duchenne community as additional information becomes available.

About ELEVIDYS (delandistrogene moxeparvovec-rokl)
ELEVIDYS (delandistrogene moxeparvovec-rokl) is a single-dose, adeno-associated virus (AAV)-based gene transfer therapy for intravenous infusion designed to address the underlying genetic cause of Duchenne muscular dystrophy – mutations or changes in the DMD gene that result in the lack of dystrophin protein – through the delivery of a transgene that codes for the targeted production of ELEVIDYS micro-dystrophin in skeletal muscle.

ELEVIDYS is indicated for the treatment of Duchenne muscular dystrophy (DMD) in individuals at least 4 years of age.

  • For patients who are ambulatory and have a confirmed mutation in the DMD gene
  • For patients who are non-ambulatory and have a confirmed mutation in the DMD gene.

However this is not the first time Sarepta has been in the hot seat… 

 

Read this interesting article from Derrick  Lowe of Science.  I will put it in its entirety as Derick Lowe really writes some great articles in his blog.

 

Source: https://www.science.org/content/blog-post/sarepta-why 

 

Sarepta. Why? 21 Jun 2024

 

I really, really wish that I were not writing about Sarepta again. But here we are. Perhaps a quick review will explain my reluctance.

Back in 2013, the company was trying to get approval for an unusual “exon skipping” molecule (eteplirsen) as a therapy for Duchenne muscular dystropy. Nothing wrong with that – in fact, there’s a lot that’s right with that, since Duchenne is a perfect “unmet medical need” situation, and the exon-skipping idea was an innovative approach ten years ago (and it’s still not exactly a standard-issue therapy). Attacking very hard-to-treat diseases with new mechanisms of action is just what we’re supposed to be doing in this business.

The approval, though, was having trouble for some very good reasons. Sarepta’s trial was very, very small and the FDA later found that their trial design was very, very flawed. But in 2016 eteplirsen was suddenly approved, to the surprise of many observers (including me). A few years later, a follow-up drug (golodirsen) from the company (golodirsen) was also rejected by the FDA (with a Complete Response Letter) but then was later suddenly approved, although no new data had been presented. That was particularly mystifying since the eventually-published CRL detailed a number of real problems with eteplirsen since its approval, problems that looked to be possibly even greater with the follow-up drug. To the best of my knowledge, the confirmatory Phase III trial that was required at the time of golodirsen’s approval is still going on and is expected to read out next year. In 2021, another Sarepta exon-skipping drug (different exon this time) was approved (casimirsen) on the basis of biomarker levels that were expected to show eventual clinical benefit, and I believe that its confirmatory trial is part of the golodirsen one. That one at least did not go through the first-rejected-then-approved pathway.

More recently the company has been working on an outright gene therapy (elevidys) for Duchenne, and the initial results were quite promising. The company got accelerated FDA approval for that one last June for 4- and 5-year-old patients, even though actual clinical benefit had not yet been established. But gene therapy is a winding road, and last October the Phase III results for Elevidys were a complete miss in the primary endpoint. Arguing commenced, with the company saying that the results in the secondary endpoints showed that the drug was “modifying the trajectory” of the disease, and the CEO called the results a “massive win” and said that the company would use them to ask for a much wider label approval from the FDA. Apparently during the conference call, when he was asked about why he was so confident, he said that the FDA’s CBER head Peter Marks was “very supportive”. (It should be noted that since then another Duchenne gene therapy effort, this one from Pfizer, also failed its Phase III, so it’s not like this is a straightforward area).

Boy, was that the truth. The agency has just granted that use expansion, and it turns out that it was all due to Peter Marks, who completely overruled three review teams and two of his highest-level staffers (all of whom said that Sarepta had not proven its case). Honestly, I’m starting to wonder why any of us go to all this trouble. It appears that all you need is a friend high up in the agency and your clinical failures just aren’t an issue any more. Review committees aren’t convinced? Statisticians don’t buy your arguments? Who cares! Peter Marks is here to deliver hot, steaming takeout containers full of Hope.

Back in 2016, when eteplirsen first came up for its advisory committee vote, I wrote that there was a matrix of possible votes and interpretations, which I summed up this way:

(1) A negative vote, which is a rejection of the potential of the drug, the suffering of DMD patients, and their right to try a therapy which apparently does no harm, for a disease that has no other options.

(2) A negative vote, which is the only possible one, considering that the company’s trial data are far too sparse and unconvincing to allow a recommendation to approve the drug. If this gets recommended, what doesn’t? Why do we require new drugs to show efficacy at all?

 

(3) A positive vote, which is a victory for patient advocates everywhere, and in particular for the extremely ill boys who suffer from this disease, or. . .

 

(4) A positive vote, which marks an undeserved and potentially hazardous victory of emotional rhetoric and relentless patient advocacy over the scientific and medical evidence.

As I’ve said many times since, including just a few days ago, I believe that the FDA is tilting very, very noticeably towards #4 while proclaiming the wonderful new world of #3. And while I realize that this may make me sound like a heartless SOB, I think this is a huge mistake that we will be paying for for a long time.

 

Note that there has been reported deaths in 2024.

 

The following was from some data published in Nature in 2025 from Clinical Trial ClinicalTrials.gov: NCT05096221.

Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS, Rodino-Klapac LR. AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial. Nat Med. 2025 Jan;31(1):332-341. doi: 10.1038/s41591-024-03304-z

 

Abstract

Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in the DMD gene that result in the absence of functional dystrophin, beginning at birth and leading to progressive impaired motor function, loss of ambulation and life-threatening cardiorespiratory complications. Delandistrogene moxeparvovec, an adeno-associated rh74-viral vector-based gene therapy, addresses absent functional dystrophin in DMD. Here the phase 3 EMBARK study aimed to assess the efficacy and safety of delandistrogene moxeparvovec in patients with DMD. Ambulatory males with DMD, ≥4 years to <8 years of age, were randomized and stratified by age group and North Star Ambulatory Assessment (NSAA) score to single-administration intravenous delandistrogene moxeparvovec (1.33 × 1014 vector genomes per kilogram; n = 63) or placebo (n = 62). At week 52, the primary endpoint, change from baseline in NSAA score, was not met (least squares mean 2.57 (delandistrogene moxeparvovec) versus 1.92 (placebo) points; between-group difference, 0.65; 95% confidence interval (CI), -0.45, 1.74; P = 0.2441). Secondary efficacy endpoints included mean micro-dystrophin expression at week 12: 34.29% (treated) versus 0.00% (placebo). Other secondary efficacy endpoints at week 52 (between-group differences (95% CI)) included: Time to Rise (-0.64 (-1.06, -0.23)), 10-meter Walk/Run (-0.42 (-0.71, -0.13)), stride velocity 95th centile (0.10 (0.00, 0.19)), 100-meter Walk/Run (-3.29 (-8.28, 1.70)), time to ascend 4 steps (-0.36 (-0.71, -0.01)), PROMIS Mobility and Upper Extremity (0.05 (-0.08, 0.19); -0.04 (-0.24, 0.17)) and number of NSAA skills gained/improved (0.19 (-0.67, 1.06)). In total, 674 adverse events were recorded with delandistrogene moxeparvovec and 514 with placebo. There were no deaths, discontinuations or clinically significant complement-mediated adverse events; 7 patients (11.1%) experienced 10 treatment-related serious adverse events. Delandistrogene moxeparvovec did not lead to a significant improvement in NSAA score at week 52. Some of the secondary endpoints numerically favored treatment, although no statistical significance can be claimed. Safety was manageable and consistent with previous delandistrogene moxeparvovec trials.

As noted in the adobe abstract everything seemed to fine as reported in  this trial.

However there was a report of an immunoloically related death in 2023:

 

For the first time, in June 2023, delandistrogene moxeparvovec (SRP-9001), a gene replacement therapy based on an adeno-associated virus (AAV) vector, was approved in the USA for children aged 4-5 years with DMD. Other promising gene therapies are in preclinical development or clinical trials, including CRISPR/Cas9-mediated strategies to restore dystrophin expression. Two deaths following DMD gene therapy with high-dose AAV vectors were attributed to AAV-mediated immune responses. The pre-existing disease underlying the therapy is most likely involved in the fatal AAV toxicity.

 

Now this may have been dose related as the patient was given a high dose.

 

DMD gene therapy death exposes risks of treating older patients

By Nick Paul Taylor  May 19, 2023 9:35am

Duchenne muscular dystrophy (DMD) Cell & Gene Therapy gene therapy viral vectors

Cure Rare Disease plans to continue its programs with alternative vectors. (iStock / Getty Images Plus)

Cure Rare Disease has shared a deep dive into the death of the only participant in a gene therapy trial. The nonprofit and its collaborators tied the death of a patient with Duchenne muscular dystrophy (DMD) to an immune reaction to the viral vector, raising concerns about dosing older, more advanced people. 

Commercial development of DMD gene therapies has focused on younger patients, with Sarepta Therapeutics limiting enrollment in its phase 3 trial to children aged 4 to 8 years old. The restrictive recruitment criteria have stopped many DMD patients from accessing gene therapies in clinical trials run by Sarepta and its rivals. The patient dosed in the Cure Rare Disease clinical trial was 27 years of age, and the therapy had been designed for him. 

Last year, the nonprofit reported that the patient, who was the brother of its CEO, died after receiving the therapy. The death led to an investigation into what happened after the patient received the therapy, which was designed to use CRISPR transactivation to upregulate an alternate form of a key DMD protein.

Writing in preprint journal medRxiv (PDF), Cure Rare Disease described the findings of the investigation. A post-mortem showed injuries to the patient’s lungs, likely caused by a strong immune reaction to the high dose of the adeno-associated virus (AAV) vector that was given to try to ensure sufficient expression to achieve a therapeutic effect. There was minimal expression of the transgene in the liver. 

At 1×1014 vg/kg, the studied dose was similar to that tested in other clinical trials but resulted in a higher vector genome load, a finding the researchers attributed to the patient’s lower lean muscle mass, 45%. The analysis suggests the patient had “a more severe innate immune reaction than others receiving similar or slightly higher doses of rAAV in microdystrophin gene therapy trials.” 

Based on the finding, the researchers identified a need for more data on the characteristics that may predispose people to severe innate immune reactions and concluded “dose determination will remain a challenge for custom-designed AAV-mediated therapies, as by definition the precise therapeutic dose will not have been established.”

As for the application of CRISPR, the researchers said the toxicity and eventual death of the patient meant that an assessment of the safety and efficacy of the treatment was not possible.  

AAV related clinical trials have been  halted for drug-induced liver injury, predominantly due to severe immune reaction.  In many cases it appears when high dose AAV therapy is used.

 

Duan D. Lethal immunotoxicity in high-dose systemic AAV therapy. Mol Ther. 2023 Nov 1;31(11):3123-3126. Doi: 10.1016/j.ymthe.2023.10.015

.10.015. Epub 2023 Oct 10. PMID: 37822079; PMCID: PMC10638066.

Abstract

High-dose systemic gene therapy with adeno-associated virus (AAV) is in clinical trials to treat various inherited diseases. Despite remarkable success in spinal muscular atrophy and promising results in other diseases, fatality has been observed due to liver, kidney, heart, or lung failure. Innate and adaptive immune responses to the vector play a critical role in the toxicity. Host factors also contribute to patient death. This mini-review summarizes clinical findings and calls for concerted efforts from all stakeholders to better understand the mechanisms underlying lethality in AAV gene therapy and to develop effective strategies to prevent/treat high-dose systemic AAV-gene-therapy-induced immunotoxicity.

Table 1.

Fatality cases following high-dose systemic AAV delivery

Drug name AAV Clinical profile Reference
Serotype Dose (vg/kg) Promoter Transgene Disease Patient age Time of death Cause of death Immunotoxicity Clinical trial ID
Acute death PF-06939926 AAV9 2 × 1014 miniMCK μDys gene DMD 16 years 6 days post-dosing heart failure innate response NCT03362502 Lek et al.,8 Philippidis9, and Lek et al.10
CRD-TMH-001 AAV9 1 × 1014 CK8e dCas9-VP64 and gRNA DMD 27 years 8 days post-dosing lung failure innate response (cytokine-mediated) NCT05514249 Lek et al.10
Subacute death Zolgensma AAV9 1.1 × 1014 CBA SMN gene SMA ≤2 years (4 patients) 5–6 weeks post-dosing liver failure adaptive response post-marketing Philippidis, Whiteley, and Kishimoto and Samulski6,19,20
Zolgensma AAV9 1.1 × 1014 CBA SMN gene SMA 6 months 8 weeks post-dosing kidney failure innate response (complement mediated) post-marketing Guillou et al.7
AT132 AAV8 1.3–3 × 1014 DES MTM1 gene XLMTM ≤5 years (4 patients) 20–40 weeks post-dosing liver fa

 

Table from Duan D. Lethal immunotoxicity in high-dose systemic AAV therapy. Mol Ther. 2023 Nov 1;31(11):3123-3126. source: https://pmc.ncbi.nlm.nih.gov/articles/PMC10638066/ 

 

Roche Decides to Stop backing Sparks Therapeutics Hemophilia A Gene Therapy Program

 

     In 2019, Roche acquired Children’s Hospital of Pennsylvania (CHOP) spinout Spark Therapeutics for $4.8 billion, one of the largest pharma acquisitions up to that time.  It was reported on this site here

 

Spark Therapeutics’ $4.8Billion deal Confirmed as Biggest VC-backed Exit in Philadelphia

 

https://pharmaceuticalintelligence.com/2019/03/01/spark-therapeutics-4-8billion-deal-confirmed-as-biggest-vc-backed-exit-in-philadelphia/ 

However as reported by Fierce Biotech (and updated above link) at https://www.fiercepharma.com/pharma/roche-overhauls-spark-gene-therapy-unit-recording-24b-full-impairment  Roche will reorganize the company and deal, bringing in Spark into the corporate fold.  However this meant massive layoffs and possibly either end of the gene therapy program in order to integrate it with Roche’s current programs.  The Spark gene therapy has met with success so it will be interesting to see how Roche continues this program in the future.

However it has been a rough year for many gene therapies.

Other Articles in this Open Access Scientific Journol of Gene Therapy 

Tailored Hope: Personalized Gene Therapy Makes History

Lessons on the Frontier of Gene & Cell Therapy – The Disruptive Dozen 12 #GCT Breakthroughs that are revolutionizing Healthcare

Novartis uses a ‘dimmer switch’ medication to fine-tune gene therapy candidates

Top Industrialization Challenges of Gene Therapy Manufacturing

Read Full Post »

Coverage Afternoon Session on Precision Oncology: Advancing Precision Medicine Annual Conference, Philadelphia PA November 1 2024

Reporter: Stephen J. Williams, Ph.D.

Unlocking the Next Quantum Leap in Precision Medicine – A Town Hall Discussion (CME Eligible)

Co-Chairs

Amanda Paulovich, Professor, Aven Foundation Endowed Chair
Fred Hutchinson Cancer Center

Susan Monarezm Deputy Director ARPA-H

Henry Rodriguez, NCI/NIH

Eric Schadt, Pathos

Ezra Cohen, Tempus

Jennifer Leib, Innovation Policy Solutions

Nick Seddon, Optum Genomics

Giselle Sholler, Penn State Hershey Children’s Hospital

Janet Woodcock, formerly FDA

Amanda Paulovich: Frustrated by the variability in cancer therapy results.  Decided to help improve cancer diagnostics

  •  We have plateaued on relying on single gene single protein companion diagnostics
  • She considers that regulatory, economic, and cultural factors are hindering the innovation and resulting in the science way ahead of the clinical aspect of diagnostics
  • Diagnostic research is not as well funded as drug discovery
  • Biomarkers, the foundation for the new personalized medicine, should be at forefront Read the Tipping Point by Malcolm Gladwell
  • FDA is constrained by statutory mandates 

 

Eric Schadt

Pathos

 

  • Multiple companies trying to chase different components of precision medicine strategy including all the one involved in AI
  • He is helping companies creating those mindmaps, knowledge graphs, and create more predictive systems
  • Population screening into population groups will be using high dimensional genomic data to determine risk in various population groups however 60% of genomic data has no reported ancestry
  • He founded Sema4 but many of these companies are losing $$ on these genomic diagnostics
  • So the market is not monetizing properly
  • Barriers to progress: arbitrary evidence thresholds for payers, big variation across health care system, regulatory framework

 

Beat Childhood Cancer Consortium Giselle

 

  • Consortium of university doctors in pediatrics
  • They had a molecular tumor board to look at the omics data
  • Showed example of choroid plexus tumor success with multi precision meds vs std chemo
  • Challenges: understanding differences in genomics test (WES, NGS, transcriptome etc.
  • Precision medicine needs to be incorporated in med education.. Fellowships.. Residency
  • She spends hours with the insurance companies providing more and more evidence to justify reimbursements
  • She says getting that evidence is a challenged;  biomedical information needs to be better CURATED

 

Dr. Ezra Cohen, Tempest

 

  • HPV head and neck cancer, good prognosis, can use cituximab and radiation
  • $2 billion investment at Templest of AI driven algorithm to integrate all omics; used LLM models too

Dr. Janet Woodcock

 

  • Our theoretical problem with precision and personalized medicine is that we are trained to think of the average patient
  • ISPAT II trial a baysian trial; COVID was a platform trial
  • She said there should there be NIH sponsored trials on adaptive biomarker platform trials

This event will be covered by the LPBI Group on Twitter.  Follow on

@Pharma_BI

@StephenJWillia2

@Aviva1950

@AdvancingPM

using the following meeting hashtags

#AdvancingPM #precisionmedicine

Read Full Post »

Overview of Alzheimer’s Disease and Novel Treatments Targeting Beta-Amyloid Deposits

Reporter: Sharada Kittur, Research Assistant 1, Synthetic Biology in Drug Discovery

 

Alzheimer’s disease (AD) is a common type of dementia. People diagnosed with this disease suffer memory loss. Severe forms of the condition prevent the patients from responding to the environment. Alzheimer’s disease patients may also experience difficulty completing basic tasks, decreased or poor judgement as their executive function competence declines. Frequent changes in mood, personality, or behavior. AD is the 7th leading cause of death in the United States, and the 5th leading cause of death for adults aged 65 and over. Unlike cancer and heart disease, whose death rates are declining, the number of people struggling with Alzheimer’s disease is projected to increase in the coming years.  

Currently, there are no cures for the disease. Many of the drugs on the market target only symptoms of the disease. The key mechanism of action (MOA) of AD drugs is inhibiting acetylcholinesterase. Acetylcholinesterase (AChE) is an enzyme that breaks down a neurotransmitter called acetylcholine (Ach), which is an important factor for memory functions. On average, Alzheimer’s disease patients have lower concentrations of acetylcholine. In order to treat this biomarker, scientists found molecules that can inhibit AChE, and reduce the breakdown of acetylcholine, thus improving the memory of patients with Alzheimer’s disease by enabling average levels of Ach. Some examples of AChE inhibitors currently on the market are

  • donepezil,
  • rivastigmine, and
  • galantamine. 

One of the main causes of Alzheimer’s disease is believed to be the buildup of beta-amyloid plaques in the brain. Beta-amyloid is a toxic protein that is normally produced in small amounts in the brain. Then microglia, a type of macrophages in the nervous system, clear out the beta-amyloid deposits. In patients with Alzheimer’s disease, the microglia can’t clear away the beta-amyloid, and this obstructs neural function and attacks neurons. The cause of the microglia’s malfunction is still unknown, but it could be due to a gene called TREM2, that tells the microglia to clear the beta-amyloid proteins. When TREM2 doesn’t function properly, the microglia collects all of the beta-amyloid, but isn’t able to dispose of it. It then releases inflammatory chemicals, which increase the production of the amyloid precursor protein (APP). This also increases the production of β-secretase and γ-secretase, enzymes that form beta-amyloid by breaking down APP. This further exacerbates the problem. 

On July 06, 2023, the Food and Drug Administration (FDA) fully approved Leqembi (lecanemab-irmb) to treat Alzheimer’s disease. Leqembi is a monoclonal antibody that specifically targets beta-amyloid proteins in the brain. It binds to the beta-amyloid proteins and clears them. This is very promising as in placebo-controlled clinical trials, it significantly decreased the beta-amyloid deposits in 18 months, and delayed cognitive decline by 5.3 months. It’s the first beta-amyloid targeting drug that was approved by the FDA as a Traditional Approval. 

Leqembi is not a cure, however. It significantly slows down the mental function deterioration of the patients, but hasn’t been shown to fully maintain it at the current level over time. In addition, Leqembi has many side effects, such as headaches, and presents amyloid-related imaging abnormalities (ARIAs). ARIAs can cause swelling and bleeding in parts of the brain, but they should be temporary for most patients. Severe ARIAs only occur in a very small percentage of patients. 

As researchers make progress in understanding the complex causes of Alzheimer’s disease, new treatments that are developed can help improve the lives of millions of people worldwide. 

SOURCES:

“Alzheimer’s Association Welcomes U.S. FDA Traditional Approval of Leqembi: Full Details.” Alzheimer’s Disease and Dementia, Alzheimer’s Association, 6 July 2023, www.alz.org/news/2023/lecanemab-leqembi-traditional-fda-approval-full#:~:text=CHICAGO%2C%20July%206%2C%202023%20%E2%80%94,confirmation%20of%20elevated%20amyloid%20beta.

Smith, Tyler. “How Well Does Leqembi Work to Fight Alzheimer’s? First FDA-Approved Alzheimer’s Drug Offers Both Promise and Challenges.” UCHealth Today, 11 Aug. 2023, www.uchealth.org/today/how-well-does-leqembi-fight-alzheimers-first-fda-approved-alzheimers-drug/

Wang, Shaoxun, et al. “Is Beta-Amyloid Accumulation a Cause or Consequence of Alzheimer’s Disease?” Journal of Alzheimer’s Parkinsonism & Dementia, U.S. National Library of Medicine, 17 Nov. 2016, www.ncbi.nlm.nih.gov/pmc/articles/PMC5555607/

“What Happens to the Brain in Alzheimer’s Disease?” National Institute on Aging, U.S. Department of Health and Human Services, 16 May 2017, www.nia.nih.gov/health/what-happens-brain-alzheimers-disease#:~:text=In%20a%20person%20with%20Alzheimer’s,beta%2Damyloid%20and%20tau%20proteins.

“What Is Alzheimer’s Disease?” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 26 Oct. 2020, www.cdc.gov/aging/aginginfo/alzheimers.htm#:~:text=Alzheimer’s%20disease%20is%20the%20most,thought%2C%20memory%2C%20and%20language.

 

Other related articles published in this Open Access Online Scientific Journal include the following:

Alzheimer’s Disease: Novel Therapeutical Approaches — Articles of Note @PharmaceuticalIntelligence.com

Curators: Larry H. Bernstein, MD, FCAP and Aviva Lev-Ari, PhD, RN

https://pharmaceuticalintelligence.com/2016/04/05/alzheimers-disease-novel-therapeutical-approaches-articles-of-note-pharmaceuticalintelligence-com/

Role of infectious agent in Alzheimer’s Disease?

Alzheimer’s disease, snake venome, amyloid and transthyretin

Alzheimer’s Disease – tau art thou, or amyloid

Breakthrough Prize for Alzheimer’s Disease 2016

Tau and IGF1 in Alzheimer’s Disease

Amyloid and Alzheimer’s Disease

Important Lead in Alzheimer’s Disease Model

BWH Researchers: Genetic Variations can Influence Immune Cell Function: Risk Factors for Alzheimer’s Disease,DM, and MS later in life

BACE1 Inhibition role played in the underlying Pathology of Alzheimer’s Disease

Late Onset of Alzheimer’s Disease and One-carbon Metabolism

Alzheimer’s Disease Conundrum – Are We Near the End of the Puzzle?

Ustekinumab New Drug Therapy for Cognitive Decline resulting from Neuroinflammatory Cytokine Signaling and Alzheimer’s Disease

New Alzheimer’s Protein – AICD

Developer of Alzheimer’s drug Exelon at Hebrew University’s School of Pharmacy: Israel Prize in Medicine awarded to Prof. Marta Weinstock-Rosin

TyrNovo’s Novel and Unique Compound, named NT219, selectively Inhibits the process of Aging and Neurodegenerative Diseases, without affecting Lifespan

@NIH – Discovery of Causal Gene Mutation Responsible for two Dissimilar Neurological diseases: Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)

Introduction to Nanotechnology and Alzheimer disease

Genomic Promise for Neurodegenerative Diseases, Dementias, Autism Spectrum, Schizophrenia, and Serious Depression

New ADNI Project to Perform Whole-genome Sequencing of Alzheimer’s Patients,

Brain Biobank

Removing Alzheimer plaques

Tracking protein expression

Schizophrenia genomics

Breakup of amyloid plaques

Mindful Discoveries

Beyond tau and amyloid

Serum Folate and Homocysteine, Mood Disorders, and Aging

Long Term Memory and Prions

Retromer in neurological disorders

Neurovascular pathways to neurodegeneration

Studying Alzheimer’s biomarkers in Down syndrome

Amyloid-Targeting Immunotherapy Targeting Neuropathologies with GSK33 Inhibitor

Brain Science

Sleep quality, amyloid and cognitive decline

microglia and brain maintenance

Notable Papers in Neurosciences

New Molecules to reduce Alzheimer’s and Dementia risk in Diabetic patients

The Alzheimer Scene around the Web

MRI Cortical Thickness Biomarker Predicts AD-like CSF and Cognitive Decline in Normal Adults

 

Keywords:

  • Alzheimer’s disease
  • microglia
  • gliosis
  • neurodegeneration
  • inflammation

 

Read Full Post »

#TUBiol5227: Biomarkers & Biotargets: Genetic Testing and Bioethics

Curator: Stephen J. Williams, Ph.D.

The advent of direct to consumer (DTC) genetic testing and the resultant rapid increase in its popularity as well as companies offering such services has created some urgent and unique bioethical challenges surrounding this niche in the marketplace. At first, most DTC companies like 23andMe and Ancestry.com offered non-clinical or non-FDA approved genetic testing as a way for consumers to draw casual inferences from their DNA sequence and existence of known genes that are linked to disease risk, or to get a glimpse of their familial background. However, many issues arose, including legal, privacy, medical, and bioethical issues. Below are some articles which will explain and discuss many of these problems associated with the DTC genetic testing market as well as some alternatives which may exist.

‘Direct-to-Consumer (DTC) Genetic Testing Market to hit USD 2.5 Bn by 2024’ by Global Market Insights

This post has the following link to the market analysis of the DTC market (https://www.gminsights.com/pressrelease/direct-to-consumer-dtc-genetic-testing-market). Below is the highlights of the report.

As you can see,this market segment appears to want to expand into the nutritional consulting business as well as targeted biomarkers for specific diseases.

Rising incidence of genetic disorders across the globe will augment the market growth

Increasing prevalence of genetic disorders will propel the demand for direct-to-consumer genetic testing and will augment industry growth over the projected timeline. Increasing cases of genetic diseases such as breast cancer, achondroplasia, colorectal cancer and other diseases have elevated the need for cost-effective and efficient genetic testing avenues in the healthcare market.
 

For instance, according to the World Cancer Research Fund (WCRF), in 2018, over 2 million new cases of cancer were diagnosed across the globe. Also, breast cancer is stated as the second most commonly occurring cancer. Availability of superior quality and advanced direct-to-consumer genetic testing has drastically reduced the mortality rates in people suffering from cancer by providing vigilant surveillance data even before the onset of the disease. Hence, the aforementioned factors will propel the direct-to-consumer genetic testing market overt the forecast timeline.
 

DTC Genetic Testing Market By Technology

Get more details on this report – Request Free Sample PDF
 

Nutrigenomic Testing will provide robust market growth

The nutrigenomic testing segment was valued over USD 220 million market value in 2019 and its market will witness a tremendous growth over 2020-2028. The growth of the market segment is attributed to increasing research activities related to nutritional aspects. Moreover, obesity is another major factor that will boost the demand for direct-to-consumer genetic testing market.
 

Nutrigenomics testing enables professionals to recommend nutritional guidance and personalized diet to obese people and help them to keep their weight under control while maintaining a healthy lifestyle. Hence, above mentioned factors are anticipated to augment the demand and adoption rate of direct-to-consumer genetic testing through 2028.
 

Browse key industry insights spread across 161 pages with 126 market data tables & 10 figures & charts from the report, “Direct-To-Consumer Genetic Testing Market Size By Test Type (Carrier Testing, Predictive Testing, Ancestry & Relationship Testing, Nutrigenomics Testing), By Distribution Channel (Online Platforms, Over-the-Counter), By Technology (Targeted Analysis, Single Nucleotide Polymorphism (SNP) Chips, Whole Genome Sequencing (WGS)), Industry Analysis Report, Regional Outlook, Application Potential, Price Trends, Competitive Market Share & Forecast, 2020 – 2028” in detail along with the table of contents:
https://www.gminsights.com/industry-analysis/direct-to-consumer-dtc-genetic-testing-market
 

Targeted analysis techniques will drive the market growth over the foreseeable future

Based on technology, the DTC genetic testing market is segmented into whole genome sequencing (WGS), targeted analysis, and single nucleotide polymorphism (SNP) chips. The targeted analysis market segment is projected to witness around 12% CAGR over the forecast period. The segmental growth is attributed to the recent advancements in genetic testing methods that has revolutionized the detection and characterization of genetic codes.
 

Targeted analysis is mainly utilized to determine any defects in genes that are responsible for a disorder or a disease. Also, growing demand for personalized medicine amongst the population suffering from genetic diseases will boost the demand for targeted analysis technology. As the technology is relatively cheaper, it is highly preferred method used in direct-to-consumer genetic testing procedures. These advantages of targeted analysis are expected to enhance the market growth over the foreseeable future.
 

Over-the-counter segment will experience a notable growth over the forecast period

The over-the-counter distribution channel is projected to witness around 11% CAGR through 2028. The segmental growth is attributed to the ease in purchasing a test kit for the consumers living in rural areas of developing countries. Consumers prefer over-the-counter distribution channel as they are directly examined by regulatory agencies making it safer to use, thereby driving the market growth over the forecast timeline.
 

Favorable regulations provide lucrative growth opportunities for direct-to-consumer genetic testing

Europe direct-to-consumer genetic testing market held around 26% share in 2019 and was valued at around USD 290 million. The regional growth is due to elevated government spending on healthcare to provide easy access to genetic testing avenues. Furthermore, European regulatory bodies are working on improving the regulations set on the direct-to-consumer genetic testing methods. Hence, the above-mentioned factors will play significant role in the market growth.
 

Focus of market players on introducing innovative direct-to-consumer genetic testing devices will offer several growth opportunities

Few of the eminent players operating in direct-to-consumer genetic testing market share include Ancestry, Color Genomics, Living DNA, Mapmygenome, Easy DNA, FamilytreeDNA (Gene By Gene), Full Genome Corporation, Helix OpCo LLC, Identigene, Karmagenes, MyHeritage, Pathway genomics, Genesis Healthcare, and 23andMe. These market players have undertaken various business strategies to enhance their financial stability and help them evolve as leading companies in the direct-to-consumer genetic testing industry.
 

For example, in November 2018, Helix launched a new genetic testing product, DNA discovery kit, that allows customer to delve into their ancestry. This development expanded the firm’s product portfolio, thereby propelling industry growth in the market.

The following posts discuss bioethical issues related to genetic testing and personalized medicine from a clinicians and scientisit’s perspective

Question: Each of these articles discusses certain bioethical issues although focuses on personalized medicine and treatment. Given your understanding of the robust process involved in validating clinical biomarkers and the current state of the DTC market, how could DTC testing results misinform patients and create mistrust in the physician-patient relationship?

Personalized Medicine, Omics, and Health Disparities in Cancer:  Can Personalized Medicine Help Reduce the Disparity Problem?

Diversity and Health Disparity Issues Need to be Addressed for GWAS and Precision Medicine Studies

Genomics & Ethics: DNA Fragments are Products of Nature or Patentable Genes?

The following posts discuss the bioethical concerns of genetic testing from a patient’s perspective:

Ethics Behind Genetic Testing in Breast Cancer: A Webinar by Laura Carfang of survivingbreastcancer.org

Ethical Concerns in Personalized Medicine: BRCA1/2 Testing in Minors and Communication of Breast Cancer Risk

23andMe Product can be obtained for Free from a new app called Genes for Good: UMich’s Facebook-based Genomics Project

Question: If you are developing a targeted treatment with a companion diagnostic, what bioethical concerns would you address during the drug development process to ensure fair, equitable and ethical treatment of all patients, in trials as well as post market?

Articles on Genetic Testing, Companion Diagnostics and Regulatory Mechanisms

Centers for Medicare & Medicaid Services announced that the federal healthcare program will cover the costs of cancer gene tests that have been approved by the Food and Drug Administration

Real Time Coverage @BIOConvention #BIO2019: Genome Editing and Regulatory Harmonization: Progress and Challenges

New York Times vs. Personalized Medicine? PMC President: Times’ Critique of Streamlined Regulatory Approval for Personalized Treatments ‘Ignores Promising Implications’ of Field

Live Conference Coverage @Medcitynews Converge 2018 Philadelphia: Early Diagnosis Through Predictive Biomarkers, NonInvasive Testing

Protecting Your Biotech IP and Market Strategy: Notes from Life Sciences Collaborative 2015 Meeting

Question: What type of regulatory concerns should one have during the drug development process in regards to use of biomarker testing? From the last article on Protecting Your IP how important is it, as a drug developer, to involve all payers during the drug development process?

Read Full Post »

NCCN Shares Latest Expert Recommendations for Prostate Cancer in Spanish and Portuguese

Reporter: Stephen J. Williams, Ph.D.

Currently many biomedical texts and US government agency guidelines are only offered in English or only offered in different languages upon request. However Spanish is spoken in a majority of countries worldwide and medical text in that language would serve as an under-served need. In addition, Portuguese is the main language in the largest country in South America, Brazil.

The LPBI Group and others have noticed this need for medical translation to other languages. Currently LPBI Group is translating their medical e-book offerings into Spanish (for more details see https://pharmaceuticalintelligence.com/vision/)

Below is an article on The National Comprehensive Cancer Network’s decision to offer their cancer treatment guidelines in Spanish and Portuguese.

Source: https://www.nccn.org/home/news/newsdetails?NewsId=2871

PLYMOUTH MEETING, PA [8 September, 2021] — The National Comprehensive Cancer Network® (NCCN®)—a nonprofit alliance of leading cancer centers in the United States—announces recently-updated versions of evidence- and expert consensus-based guidelines for treating prostate cancer, translated into Spanish and Portuguese. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) feature frequently updated cancer treatment recommendations from multidisciplinary panels of experts across NCCN Member Institutions. Independent studies have repeatedly found that following these recommendations correlates with better outcomes and longer survival.

“Everyone with prostate cancer should have access to care that is based on current and reliable evidence,” said Robert W. Carlson, MD, Chief Executive Officer, NCCN. “These updated translations—along with all of our other translated and adapted resources—help us to define and advance high-quality, high-value, patient-centered cancer care globally, so patients everywhere can live better lives.”

Prostate cancer is the second most commonly occurring cancer in men, impacting more than a million people worldwide every year.[1] In 2020, the NCCN Guidelines® for Prostate Cancer were downloaded more than 200,000 times by people outside of the United States. Approximately 47 percent of registered users for NCCN.org are located outside the U.S., with Brazil, Spain, and Mexico among the top ten countries represented.

“NCCN Guidelines are incredibly helpful resources in the work we do to ensure cancer care across Latin America meets the highest standards,” said Diogo Bastos, MD, and Andrey Soares, MD, Chair and Scientific Director of the Genitourinary Group of The Latin American Cooperative Oncology Group (LACOG). The organization has worked with NCCN in the past to develop Latin American editions of the NCCN Guidelines for Breast Cancer, Colon Cancer, Non-Small Cell Lung Cancer, Prostate Cancer, Multiple Myeloma, and Rectal Cancer, and co-hosted a webinar on “Management of Prostate Cancer for Latin America” earlier this year. “We appreciate all of NCCN’s efforts to make sure these gold-standard recommendations are accessible to non-English speakers and applicable for varying circumstances.”

NCCN also publishes NCCN Guidelines for Patients®, containing the same treatment information in non-medical terms, intended for patients and caregivers. The NCCN Guidelines for Patients: Prostate Cancer were found to be among the most trustworthy sources of information online according to a recent international study. These patient guidelines have been divided into two books, covering early and advanced prostate cancer; both have been translated into Spanish and Portuguese as well.

NCCN collaborates with organizations across the globe on resources based on the NCCN Guidelines that account for local accessibility, consideration of metabolic differences in populations, and regional regulatory variation. They can be downloaded free-of-charge for non-commercial use at NCCN.org/global or via the Virtual Library of NCCN Guidelines App. Learn more and join the conversation with the hashtag #NCCNGlobal.


[1] Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global Cancer Statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin, in press. The online GLOBOCAN 2018 database is accessible at http://gco.iarc.fr/, as part of IARC’s Global Cancer Observatory.

About the National Comprehensive Cancer Network

The National Comprehensive Cancer Network® (NCCN®) is a not-for-profit alliance of leading cancer centers devoted to patient care, research, and education. NCCN is dedicated to improving and facilitating quality, effective, efficient, and accessible cancer care so patients can live better lives. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) provide transparent, evidence-based, expert consensus recommendations for cancer treatment, prevention, and supportive services; they are the recognized standard for clinical direction and policy in cancer management and the most thorough and frequently-updated clinical practice guidelines available in any area of medicine. The NCCN Guidelines for Patients® provide expert cancer treatment information to inform and empower patients and caregivers, through support from the NCCN Foundation®. NCCN also advances continuing education, global initiatives, policy, and research collaboration and publication in oncology. Visit NCCN.org for more information and follow NCCN on Facebook @NCCNorg, Instagram @NCCNorg, and Twitter @NCCN.

Please see LPBI Group’s efforts in medical text translation and Natural Language Processing of Medical Text at

Read Full Post »

Science Policy Forum: Should we trust healthcare explanations from AI predictive systems?

Some in industry voice their concerns

Curator: Stephen J. Williams, PhD

Post on AI healthcare and explainable AI

   In a Policy Forum article in Science “Beware explanations from AI in health care”, Boris Babic, Sara Gerke, Theodoros Evgeniou, and Glenn Cohen discuss the caveats on relying on explainable versus interpretable artificial intelligence (AI) and Machine Learning (ML) algorithms to make complex health decisions.  The FDA has already approved some AI/ML algorithms for analysis of medical images for diagnostic purposes.  These have been discussed in prior posts on this site, as well as issues arising from multi-center trials.  The authors of this perspective article argue that choice of type of algorithm (explainable versus interpretable) algorithms may have far reaching consequences in health care.

Summary

Artificial intelligence and machine learning (AI/ML) algorithms are increasingly developed in health care for diagnosis and treatment of a variety of medical conditions (1). However, despite the technical prowess of such systems, their adoption has been challenging, and whether and how much they will actually improve health care remains to be seen. A central reason for this is that the effectiveness of AI/ML-based medical devices depends largely on the behavioral characteristics of its users, who, for example, are often vulnerable to well-documented biases or algorithmic aversion (2). Many stakeholders increasingly identify the so-called black-box nature of predictive algorithms as the core source of users’ skepticism, lack of trust, and slow uptake (3, 4). As a result, lawmakers have been moving in the direction of requiring the availability of explanations for black-box algorithmic decisions (5). Indeed, a near-consensus is emerging in favor of explainable AI/ML among academics, governments, and civil society groups. Many are drawn to this approach to harness the accuracy benefits of noninterpretable AI/ML such as deep learning or neural nets while also supporting transparency, trust, and adoption. We argue that this consensus, at least as applied to health care, both overstates the benefits and undercounts the drawbacks of requiring black-box algorithms to be explainable.

Source: https://science.sciencemag.org/content/373/6552/284?_ga=2.166262518.995809660.1627762475-1953442883.1627762475

Types of AI/ML Algorithms: Explainable and Interpretable algorithms

  1.  Interpretable AI: A typical AI/ML task requires constructing algorithms from vector inputs and generating an output related to an outcome (like diagnosing a cardiac event from an image).  Generally the algorithm has to be trained on past data with known parameters.  When an algorithm is called interpretable, this means that the algorithm uses a transparent or “white box” function which is easily understandable. Such example might be a linear function to determine relationships where parameters are simple and not complex.  Although they may not be as accurate as the more complex explainable AI/ML algorithms, they are open, transparent, and easily understood by the operators.
  2. Explainable AI/ML:  This type of algorithm depends upon multiple complex parameters and takes a first round of predictions from a “black box” model then uses a second algorithm from an interpretable function to better approximate outputs of the first model.  The first algorithm is trained not with original data but based on predictions resembling multiple iterations of computing.  Therefore this method is more accurate or deemed more reliable in prediction however is very complex and is not easily understandable.  Many medical devices that use an AI/ML algorithm use this type.  An example is deep learning and neural networks.

The purpose of both these methodologies is to deal with problems of opacity, or that AI predictions based from a black box undermines trust in the AI.

For a deeper understanding of these two types of algorithms see here:

https://www.kdnuggets.com/2018/12/machine-learning-explainability-interpretability-ai.html

or https://www.bmc.com/blogs/machine-learning-interpretability-vs-explainability/

(a longer read but great explanation)

From the above blog post of Jonathan Johnson

  • How interpretability is different from explainability
  • Why a model might need to be interpretable and/or explainable
  • Who is working to solve the black box problem—and how

What is interpretability?

Does Chipotle make your stomach hurt? Does loud noise accelerate hearing loss? Are women less aggressive than men? If a machine learning model can create a definition around these relationships, it is interpretable.

All models must start with a hypothesis. Human curiosity propels a being to intuit that one thing relates to another. “Hmm…multiple black people shot by policemen…seemingly out of proportion to other races…something might be systemic?” Explore.

People create internal models to interpret their surroundings. In the field of machine learning, these models can be tested and verified as either accurate or inaccurate representations of the world.

Interpretability means that the cause and effect can be determined.

What is explainability?

ML models are often called black-box models because they allow a pre-set number of empty parameters, or nodes, to be assigned values by the machine learning algorithm. Specifically, the back-propagation step is responsible for updating the weights based on its error function.

To predict when a person might die—the fun gamble one might play when calculating a life insurance premium, and the strange bet a person makes against their own life when purchasing a life insurance package—a model will take in its inputs, and output a percent chance the given person has at living to age 80.

Below is an image of a neural network. The inputs are the yellow; the outputs are the orange. Like a rubric to an overall grade, explainability shows how significant each of the parameters, all the blue nodes, contribute to the final decision.

In this neural network, the hidden layers (the two columns of blue dots) would be the black box.

For example, we have these data inputs:

  • Age
  • BMI score
  • Number of years spent smoking
  • Career category

If this model had high explainability, we’d be able to say, for instance:

  • The career category is about 40% important
  • The number of years spent smoking weighs in at 35% important
  • The age is 15% important
  • The BMI score is 10% important

Explainability: important, not always necessary

Explainability becomes significant in the field of machine learning because, often, it is not apparent. Explainability is often unnecessary. A machine learning engineer can build a model without ever having considered the model’s explainability. It is an extra step in the building process—like wearing a seat belt while driving a car. It is unnecessary for the car to perform, but offers insurance when things crash.

The benefit a deep neural net offers to engineers is it creates a black box of parameters, like fake additional data points, that allow a model to base its decisions against. These fake data points go unknown to the engineer. The black box, or hidden layers, allow a model to make associations among the given data points to predict better results. For example, if we are deciding how long someone might have to live, and we use career data as an input, it is possible the model sorts the careers into high- and low-risk career options all on its own.

Perhaps we inspect a node and see it relates oil rig workers, underwater welders, and boat cooks to each other. It is possible the neural net makes connections between the lifespan of these individuals and puts a placeholder in the deep net to associate these. If we were to examine the individual nodes in the black box, we could note this clustering interprets water careers to be a high-risk job.

In the previous chart, each one of the lines connecting from the yellow dot to the blue dot can represent a signal, weighing the importance of that node in determining the overall score of the output.

  • If that signal is high, that node is significant to the model’s overall performance.
  • If that signal is low, the node is insignificant.

With this understanding, we can define explainability as:

Knowledge of what one node represents and how important it is to the model’s performance.

So how does choice of these two different algorithms make a difference with respect to health care and medical decision making?

The authors argue: 

“Regulators like the FDA should focus on those aspects of the AI/ML system that directly bear on its safety and effectiveness – in particular, how does it perform in the hands of its intended users?”

A suggestion for

  • Enhanced more involved clinical trials
  • Provide individuals added flexibility when interacting with a model, for example inputting their own test data
  • More interaction between user and model generators
  • Determining in which situations call for interpretable AI versus explainable (for instance predicting which patients will require dialysis after kidney damage)

Other articles on AI/ML in medicine and healthcare on this Open Access Journal include

Applying AI to Improve Interpretation of Medical Imaging

Real Time Coverage @BIOConvention #BIO2019: Machine Learning and Artificial Intelligence #AI: Realizing Precision Medicine One Patient at a Time

LIVE Day Three – World Medical Innovation Forum ARTIFICIAL INTELLIGENCE, Boston, MA USA, Monday, April 10, 2019

Cardiac MRI Imaging Breakthrough: The First AI-assisted Cardiac MRI Scan Solution, HeartVista Receives FDA 510(k) Clearance for One Click™ Cardiac MRI Package

 

Read Full Post »

Did FDA Reverse Course on Convalescent Plasma Therapy for COVID-19?

Reporter: Stephen J. Williams, PhD

 

Starting with a timeline of recent announcements by the FDA on convalescent plasma therapy

April 16, 2020

FDA STATEMENT

Coronavirus (COVID-19) Update: FDA Encourages Recovered Patients to Donate Plasma for Development of Blood-Related Therapies

 

As part of the all-of-America approach to fighting the COVID-19 pandemic, the U.S. Food and Drug Administration has been working with partners across the U.S. government, academia and industry to expedite the development and availability of critical medical products to treat this novel virus. Today, we are providing an update on one potential treatment called convalescent plasma and encouraging those who have recovered from COVID-19 to donate plasma to help others fight this disease.

Convalescent plasma is an antibody-rich product made from blood donated by people who have recovered from the disease caused by the virus. Prior experience with respiratory viruses and limited data that have emerged from China suggest that convalescent plasma has the potential to lessen the severity or shorten the length of illness caused by COVID-19. It is important that we evaluate this potential therapy in the context of clinical trials, through expanded access, as well as facilitate emergency access for individual patients, as appropriate.

The response to the agency’s recently announced national efforts to facilitate the development of and access to convalescent plasma has been tremendous. More than 1,040 sites and 950 physician investigators nationwide have signed on to participate in the Mayo Clinic-led expanded access protocol. A number of clinical trials are also taking place to evaluate the safety and efficacy of convalescent plasma and the FDA has granted numerous single patient emergency investigational new drug (eIND) applications as well.

Source: https://www.fda.gov/news-events/press-announcements/coronavirus-covid-19-update-fda-encourages-recovered-patients-donate-plasma-development-blood

August 23, 2020

 

Recommendations for Investigational COVID-19 Convalescent Plasma

 

  • FDA issues guidelines on clinical trials and obtaining emergency enrollment concerning convalescent plasma

FDA has issued guidance to provide recommendations to health care providers and investigators on the administration and study of investigational convalescent plasma collected from individuals who have recovered from COVID-19 (COVID-19 convalescent plasma) during the public health emergency.

The guidance provides recommendations on the following:

Because COVID-19 convalescent plasma has not yet been approved for use by FDA, it is regulated as an investigational product.  A health care provider must participate in one of the pathways described below.  FDA does not collect COVID-19 convalescent plasma or provide COVID-19 convalescent plasma.  Health care providers or acute care facilities should instead obtain COVID-19 convalescent plasma from an FDA-registered blood establishment.

Excerpts from the guidance document are provided below.

Background

The Food and Drug Administration (FDA or Agency) plays a critical role in protecting the United States (U.S.) from threats including emerging infectious diseases, such as the Coronavirus Disease 2019 (COVID-19) pandemic.  FDA is committed to providing timely guidance to support response efforts to this pandemic.

One investigational treatment being explored for COVID-19 is the use of convalescent plasma collected from individuals who have recovered from COVID-19.  Convalescent plasma that contains antibodies to severe acute respiratory syndrome coronavirus 2 or SARS-CoV-2 (the virus that causes COVID-19) is being studied for administration to patients with COVID-19. Use of convalescent plasma has been studied in outbreaks of other respiratory infections, including the 2003 SARS-CoV-1 epidemic, the 2009-2010 H1N1 influenza virus pandemic, and the 2012 MERS-CoV epidemic.

Although promising, convalescent plasma has not yet been shown to be safe and effective as a treatment for COVID-19. Therefore, it is important to study the safety and efficacy of COVID-19 convalescent plasma in clinical trials.

Pathways for Use of Investigational COVID-19 Convalescent Plasma

The following pathways are available for administering or studying the use of COVID-19 convalescent plasma:

  1. Clinical Trials

Investigators wishing to study the use of convalescent plasma in a clinical trial should submit requests to FDA for investigational use under the traditional IND regulatory pathway (21 CFR Part 312). CBER’s Office of Blood Research and Review is committed to engaging with sponsors and reviewing such requests expeditiously. During the COVID-19 pandemic, INDs may be submitted via email to CBERDCC_eMailSub@fda.hhs.gov.

  1. Expanded Access

An IND application for expanded access is an alternative for use of COVID-19 convalescent plasma for patients with serious or immediately life-threatening COVID-19 disease who are not eligible or who are unable to participate in randomized clinical trials (21 CFR 312.305). FDA has worked with multiple federal partners and academia to open an expanded access protocol to facilitate access to COVID-19 convalescent plasma across the nation. Access to this investigational product may be available through participation of acute care facilities in an investigational expanded access protocol under an IND that is already in place.

Currently, the following protocol is in place: National Expanded Access Treatment Protocol

  1. Single Patient Emergency IND

Although participation in clinical trials or an expanded access program are ways for patients to obtain access to convalescent plasma, for various reasons these may not be readily available to all patients in potential need. Therefore, given the public health emergency that the COVID-19 pandemic presents, and while clinical trials are being conducted and a national expanded access protocol is available, FDA also is facilitating access to COVID-19 convalescent plasma for use in patients with serious or immediately life-threatening COVID-19 infections through the process of the patient’s physician requesting a single patient emergency IND (eIND) for the individual patient under 21 CFR 312.310. This process allows the use of an investigational drug for the treatment of an individual patient by a licensed physician upon FDA authorization, if the applicable regulatory criteria are met.  Note, in such case, a licensed physician seeking to administer COVID-19 convalescent plasma to an individual patient must request the eIND (see 21 CFR 312.310(b)).

To Obtain a Single Patient Emergency IND  

The requesting physician may contact FDA by completing Form FDA 3926 (https://www.fda.gov/media/98616/download) and submitting the form by email to CBER_eIND_Covid-19@FDA.HHS.gov.

FACT SHEET FOR PATIENTS AND PARENTS/CAREGIVERS EMERGENCY USE AUTHORIZATION (EUA) OF COVID-19 CONVALESCENT PLASMA FOR TREATMENT OF COVID-19 IN HOSPITALIZED PATIENTS

  • FDA issues fact sheet for patients on donating plasma

August 23, 2020

 

FDA Issues Emergency Use Authorization for Convalescent Plasma as Potential Promising COVID–19 Treatment, Another Achievement in Administration’s Fight Against Pandemic

 

Today, the U.S. Food and Drug Administration issued an emergency use authorization (EUA) for investigational convalescent plasma for the treatment of COVID-19 in hospitalized patients as part of the agency’s ongoing efforts to fight COVID-19. Based on scientific evidence available, the FDA concluded, as outlined in its decision memorandum, this product may be effective in treating COVID-19 and that the known and potential benefits of the product outweigh the known and potential risks of the product.

Today’s action follows the FDA’s extensive review of the science and data generated over the past several months stemming from efforts to facilitate emergency access to convalescent plasma for patients as clinical trials to definitively demonstrate safety and efficacy remain ongoing.

The EUA authorizes the distribution of COVID-19 convalescent plasma in the U.S. and its administration by health care providers, as appropriate, to treat suspected or laboratory-confirmed COVID-19 in hospitalized patients with COVID-19.

Alex Azar, Health and Human Services Secretary:
“The FDA’s emergency authorization for convalescent plasma is a milestone achievement in President Trump’s efforts to save lives from COVID-19,” said Secretary Azar. “The Trump Administration recognized the potential of convalescent plasma early on. Months ago, the FDA, BARDA, and private partners began work on making this product available across the country while continuing to evaluate data through clinical trials. Our work on convalescent plasma has delivered broader access to the product than is available in any other country and reached more than 70,000 American patients so far. We are deeply grateful to Americans who have already donated and encourage individuals who have recovered from COVID-19 to consider donating convalescent plasma.”

Stephen M. Hahn, M.D., FDA Commissioner:
“I am committed to releasing safe and potentially helpful treatments for COVID-19 as quickly as possible in order to save lives. We’re encouraged by the early promising data that we’ve seen about convalescent plasma. The data from studies conducted this year shows that plasma from patients who’ve recovered from COVID-19 has the potential to help treat those who are suffering from the effects of getting this terrible virus,” said Dr. Hahn. “At the same time, we will continue to work with researchers to continue randomized clinical trials to study the safety and effectiveness of convalescent plasma in treating patients infected with the novel coronavirus.”

Scientific Evidence on Convalescent Plasma

Based on an evaluation of the EUA criteria and the totality of the available scientific evidence, the FDA’s Center for Biologics Evaluation and Research determined that the statutory criteria for issuing an EUA criteria were met.

The FDA determined that it is reasonable to believe that COVID-19 convalescent plasma may be effective in lessening the severity or shortening the length of COVID-19 illness in some hospitalized patients. The agency also determined that the known and potential benefits of the product, when used to treat COVID-19, outweigh the known and potential risks of the product and that that there are no adequate, approved, and available alternative treatments.

 

August 24, 2020

Donate COVID-19 Plasma

 

  • FDA posts video and blog about how to donate plasms if you had been infected with COVID

 

https://youtu.be/PlX15rWdBbY

 

 

Please go to https://www.fda.gov/emergency-preparedness-and-response/coronavirus-disease-2019-covid-19/donate-covid-19-plasma

to read more from FDA

 

 

August 25, 2020

 

CLINICAL MEMORANDUM From: , OBRR/DBCD/CRS To: , OBRR Through: , OBRR/DBCD , OBRR/DBCD , OBRR/DBCD/CRS Re: EUA 26382: Emergency Use Authorization (EUA) Request (original request 8/12/20; amended request 8/23/20) Product: COVID-19 Convalescent Plasma Items reviewed: EUA request Fact Sheet for Health Care Providers Fact Sheet for Recipients Sponsor: Robert Kadlec, M.D. Assistant Secretary for Preparedness and Response (ASPR) Office of Assistant Secretary for Preparedness and Response (ASPR) U.S. Department of Health and Human Services (HHS) EXECUTIVE SUMMARY COVID-19 Convalescent Plasma (CCP), an unapproved biological product, is proposed for use under an Emergency Use Authorization (EUA) under section 564 of the Federal Food, Drug, and Cosmetic Act (the Act),(21 USC 360bbb-3) as a passive immune therapy for the treatment of hospitalized patients with COVID-19, a serious or life-threatening disease. There currently is no adequate, approved, and available alternative to CCP for treating COVID-19. The sponsor has pointed to four lines of evidence to support that CCP may be effective in the treatment of hospitalized patients with COVID-19: 1) History of convalescent plasma for respiratory coronaviruses; 2) Evidence of preclinical safety and efficacy in animal models; 3) Published studies of the safety and efficacy of CCP; and 4) Data on safety and efficacy from the National Expanded Access Treatment Protocol (EAP) sponsored by the Mayo Clinic. Considering the totality of the scientific evidence presented in the EUA, I conclude that current data for the use of CCP in adult hospitalized patients with COVID-19 supports the conclusion that CCP meets the “may be effective” criterion for issuance of an EUA from section 564(c)(2)(A) of the Act. It is reasonable to conclude that the known and potential benefits of CCP outweigh the known and potential risks of CCP for the proposed EUA. Current data suggest the largest clinical benefit is associated with high-titer units of CCP administered early course of the disease.

Source: https://www.fda.gov/media/141480/download

 

And Today August 26, 2020

  • A letter, from Senator Warren, to Commissioner Hahn from Senate Committee asking for documentation for any communication between FDA and White House

August 25, 2020 Dr. Stephen M. Hahn, M.D. Commissioner of Food and Drugs U.S. Food and Drug Administration 10903 New Hampshire Avenue Silver Spring, MD 20993 Dear Commissioner Hahn: We write regarding the U.S. Food and Drug Administration’s (FDA) troubling decision earlier this week to issue an Emergency Use Authorization (EUA) for convalescent plasma as a treatment for coronavirus disease 2019 (COVID-19).1 Reports suggests that the FDA granted the EUA amid intense political pressure from President Trump and other Administration officials, despite limited evidence of convalescent plasma’s effectiveness as a COVID-19 treatment.2 To help us better understand whether the issuance of the blood plasma EUA was motivated by politics, we request copies of any and all communications between FDA and White House officials regarding the blood plasma EUA.

Source: https://www.warren.senate.gov/imo/media/doc/2020.08.25%20Letter%20to%20FDA%20re%20Blood%20Plasma%20EUA.pdf

…….. which may have been a response to this article

FDA chief walks back comments on effectiveness of coronavirus plasma treatment

 

From CNBC: https://www.cnbc.com/2020/08/25/fda-chief-walks-back-comments-on-effectiveness-of-coronavirus-plasma-treatment.html

PUBLISHED TUE, AUG 25 202010:45 AM EDTUPDATED TUE, AUG 25 20204:12 PM EDT

Berkeley Lovelace Jr.@BERKELEYJR

Will Feuer@WILLFOIA

KEY POINTS

  • The authorization will allow health-care providers in the U.S. to use the plasma to treat hospitalized patients with Covid-19.
  • The FDA’s emergency use authorization came a day after President Trump accused the agency of delaying enrollment in clinical trials for vaccines or therapeutics.
  • The criticism from Trump and action from the FDA led some scientists to believe the authorization, which came on the eve of the GOP national convention, was politically motivated.

FDA Commissioner Dr. Stephen Hahn is walking back comments on the benefits of convalescent plasma, saying he could have done a better job of explaining the data on its effectiveness against the coronavirus after authorizing it for emergency use over the weekend.

Commisioners responses over Twitter

https://twitter.com/SteveFDA/status/1298071603675373569?s=20

https://twitter.com/SteveFDA/status/1298071619236245504?s=20

August 26, 2020

In an interview with Bloomberg’s , FDA Commissioner Hahn reiterates that his decision was based on hard evidence and scientific fact, not political pressure.  The whole interview is at the link below:

https://www.bloomberg.com/news/articles/2020-08-25/fda-s-hahn-vows-to-stick-to-the-science-amid-vaccine-pressure?sref=yLCixKPR

Some key points:

  • Dr. Hahn corrected his initial statement about 35% of people would be cured by convalescent plasma. In the interview he stated:

I was trying to do what I do with patients, because patients often understand things in absolute terms versus relative terms. And I should’ve been more careful, there’s no question about it. What I was trying to get to is that if you look at a hundred patients who receive high titre, and a hundred patients who received low titre, the difference between those two particular subset of patients who had these specific criteria was a 35% reduction in mortality. So I frankly did not do a good job of explaining that.

  • FDA colleagues had frank discussion after the statement was made.  He is not asking for other people in HHS to retract their statements, only is concerned that FDA has correct information for physicians and patients
  • Hahn is worried that people will not enroll due to chance they may be given placebo
  • He gave no opinion when asked if FDA should be an independent agency

 

For more articles on COVID19 please go to our Coronavirus Portal at

https://pharmaceuticalintelligence.com/coronavirus-portal/

 

Read Full Post »

Multiple Barriers Identified Which May Hamper Use of Artificial Intelligence in the Clinical Setting

Reporter: Stephen J. Williams, PhD.

From the Journal Science:Science  21 Jun 2019: Vol. 364, Issue 6446, pp. 1119-1120

By Jennifer Couzin-Frankel

3.3.21

3.3.21   Multiple Barriers Identified Which May Hamper Use of Artificial Intelligence in the Clinical Setting, Volume 2 (Volume Two: Latest in Genomics Methodologies for Therapeutics: Gene Editing, NGS and BioInformatics, Simulations and the Genome Ontology), Part 2: CRISPR for Gene Editing and DNA Repair

In a commentary article from Jennifer Couzin-Frankel entitled “Medicine contends with how to use artificial intelligence”  the barriers to the efficient and reliable adoption of artificial intelligence and machine learning in the hospital setting are discussed.   In summary these barriers result from lack of reproducibility across hospitals. For instance, a major concern among radiologists is the AI software being developed to read images in order to magnify small changes, such as with cardiac images, is developed within one hospital and may not reflect the equipment or standard practices used in other hospital systems.  To address this issue, lust recently, US scientists and government regulators issued guidance describing how to convert research-based AI into improved medical images and published these guidance in the Journal of the American College of Radiology.  The group suggested greater collaboration among relevant parties in developing of AI practices, including software engineers, scientists, clinicians, radiologists etc. 

As thousands of images are fed into AI algorithms, according to neurosurgeon Eric Oermann at Mount Sinai Hospital, the signals they recognize can have less to do with disease than with other patient characteristics, the brand of MRI machine, or even how a scanner is angled.  For example Oermann and Mount Sinai developed an AI algorithm to detect spots on a lung scan indicative of pneumonia and when tested in a group of new patients the algorithm could detect pneumonia with 93% accuracy.  

However when the group from Sinai tested their algorithm from tens of thousands of scans from other hospitals including NIH success rate fell to 73-80%, indicative of bias within the training set: in other words there was something unique about the way Mt. Sinai does their scans relative to other hospitals.  Indeed, many of the patients Mt. Sinai sees are too sick to get out of bed and radiologists would use portable scanners, which generate different images than stand alone scanners.  

The results were published in Plos Medicine as seen below:

PLoS Med. 2018 Nov 6;15(11):e1002683. doi: 10.1371/journal.pmed.1002683. eCollection 2018 Nov.

Variable generalization performance of a deep learning model to detect pneumonia in chest radiographs: A cross-sectional study.

Zech JR1, Badgeley MA2, Liu M2, Costa AB3, Titano JJ4, Oermann EK3.

Abstract

BACKGROUND:

There is interest in using convolutional neural networks (CNNs) to analyze medical imaging to provide computer-aided diagnosis (CAD). Recent work has suggested that image classification CNNs may not generalize to new data as well as previously believed. We assessed how well CNNs generalized across three hospital systems for a simulated pneumonia screening task.

METHODS AND FINDINGS:

A cross-sectional design with multiple model training cohorts was used to evaluate model generalizability to external sites using split-sample validation. A total of 158,323 chest radiographs were drawn from three institutions: National Institutes of Health Clinical Center (NIH; 112,120 from 30,805 patients), Mount Sinai Hospital (MSH; 42,396 from 12,904 patients), and Indiana University Network for Patient Care (IU; 3,807 from 3,683 patients). These patient populations had an age mean (SD) of 46.9 years (16.6), 63.2 years (16.5), and 49.6 years (17) with a female percentage of 43.5%, 44.8%, and 57.3%, respectively. We assessed individual models using the area under the receiver operating characteristic curve (AUC) for radiographic findings consistent with pneumonia and compared performance on different test sets with DeLong’s test. The prevalence of pneumonia was high enough at MSH (34.2%) relative to NIH and IU (1.2% and 1.0%) that merely sorting by hospital system achieved an AUC of 0.861 (95% CI 0.855-0.866) on the joint MSH-NIH dataset. Models trained on data from either NIH or MSH had equivalent performance on IU (P values 0.580 and 0.273, respectively) and inferior performance on data from each other relative to an internal test set (i.e., new data from within the hospital system used for training data; P values both <0.001). The highest internal performance was achieved by combining training and test data from MSH and NIH (AUC 0.931, 95% CI 0.927-0.936), but this model demonstrated significantly lower external performance at IU (AUC 0.815, 95% CI 0.745-0.885, P = 0.001). To test the effect of pooling data from sites with disparate pneumonia prevalence, we used stratified subsampling to generate MSH-NIH cohorts that only differed in disease prevalence between training data sites. When both training data sites had the same pneumonia prevalence, the model performed consistently on external IU data (P = 0.88). When a 10-fold difference in pneumonia rate was introduced between sites, internal test performance improved compared to the balanced model (10× MSH risk P < 0.001; 10× NIH P = 0.002), but this outperformance failed to generalize to IU (MSH 10× P < 0.001; NIH 10× P = 0.027). CNNs were able to directly detect hospital system of a radiograph for 99.95% NIH (22,050/22,062) and 99.98% MSH (8,386/8,388) radiographs. The primary limitation of our approach and the available public data is that we cannot fully assess what other factors might be contributing to hospital system-specific biases.

CONCLUSION:

Pneumonia-screening CNNs achieved better internal than external performance in 3 out of 5 natural comparisons. When models were trained on pooled data from sites with different pneumonia prevalence, they performed better on new pooled data from these sites but not on external data. CNNs robustly identified hospital system and department within a hospital, which can have large differences in disease burden and may confound predictions.

PMID: 30399157 PMCID: PMC6219764 DOI: 10.1371/journal.pmed.1002683

[Indexed for MEDLINE] Free PMC Article

Images from this publication.See all images (3)Free text

 

Surprisingly, not many researchers have begun to use data obtained from different hospitals.  The FDA has issued some guidance in the matter but considers “locked” AI software or unchanging software as a medical device.  However they just announced development of a framework for regulating more cutting edge software that continues to learn over time.

Still the key point is that collaboration over multiple health systems in various countries may be necessary for development of AI software which is used in multiple clinical settings.  Otherwise each hospital will need to develop their own software only used on their own system and would provide a regulatory headache for the FDA.

Other articles on Artificial Intelligence in Clinical Medicine on this Open Access Journal include:

Top 12 Artificial Intelligence Innovations Disrupting Healthcare by 2020

The launch of SCAI – Interview with Gérard Biau, director of the Sorbonne Center for Artificial Intelligence (SCAI).

Real Time Coverage @BIOConvention #BIO2019: Machine Learning and Artificial Intelligence #AI: Realizing Precision Medicine One Patient at a Time

50 Contemporary Artificial Intelligence Leading Experts and Researchers

Read Full Post »

Older Posts »