The Foundation for the National Institutes of Health Announces Publication of Regulatory Playbook to Advance AAV Gene Therapies for Rare Diseases

The Playbook Was Developed by the Accelerating Medicines Partnership® (AMP®) Bespoke Gene Therapy Consortium

NORTH BETHESDA, Md., February 6, 2024 — The Foundation for the National Institutes of Health (FNIH) today announces the online publication of the first “playbook” designed to help accelerate the development of adeno-associated virus (AAV) gene therapies for rare diseases.

Developed by the Accelerating Medicines Partnership® (AMP®) Bespoke Gene Therapy Consortium (BGTC), the BGTC Regulatory Playbook provides a roadmap for streamlining product development and navigation of the regulatory pathway for AAV gene therapies, with the goal of getting new treatments to patients sooner. The playbook will be updated over time, and future versions will be published online. AMP BGTC is a public-private partnership between the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA), life science companies, and patient foundations.

“Gene therapies offer promise to thousands of patients with rare diseases, but progress is slowed by uncertainties about manufacturing and a clear regulatory path. The BGTC partnership brings experts across the biosciences ecosystem together to define the best ways to safely advance these treatments and encourage increased investments in their development,” said Julie Gerberding, MD, MPH, President and Chief Executive Officer of the FNIH.

More than 30 million people in the United States live with the devastating effects of rare diseases. There are more than 10,000 rare diseases, 80% of which are caused by genetic defects. These individuals often lack access to effective treatment, as knowledge and research funding for many rare diseases often lag compared to more common diseases. With the current approach of targeting one rare disease at a time, there are no effective business models to return the investments needed to bring a single rare disease therapy for a small population to market.

The playbook was created as a “one-stop-shop guide” for clinical and drug development researchers who are working to bring AAV gene therapies to rare disease patients. It addresses the critical steps before the submission of Investigational New Drug (IND) applications for the first human studies and includes overviews of regulatory best practices as well as case studies of existing AAV gene therapies. Future versions of the playbook will incorporate learnings from the BGTC’s efforts to streamline navigation of the regulatory pathway, including consortium members’ experience with proposals to minimize the amount of analytical testing and toxicology studies necessary for IND approval, without compromising patient safety. As a result, it is anticipated that the playbook will benefit future investigators as they develop novel AAV gene therapies and in the process change the definition of a disease of commercial interest.

“A core principle of our longstanding AMP program is rapid dissemination of data and other resources to the research community and the public, and that will certainly be true for the BGTC,” said Courtney Silverthorn, PhD, Associate Vice President, Science Partnerships and Director of the Accelerating Medicines Partnership Program at the FNIH. “The BGTC is pleased to take the first step through publication of this regulatory playbook. We look forward to releasing future versions, helping to move the field to a platform-based approach that will safely accelerate new therapies for patients.”

The playbook content and templates were developed by BGTC consortium team members and drew upon publicly available resources such as FDA regulatory guidance, publications, and other government sources. The publication follows the BGTC’s selection in May 2023 of eight rare diseases for its clinical trial portfolio that will pioneer the framework outlined in the playbook.

The BGTC has more than $100 million in financial and in-kind commitments from its partnership with 35 member organizations, spanning 11 NIH institutes and centers, 13 life science companies, 10 patient and other nonprofit organizations, and the FDA. For more information about the BGTC program and to learn more about these diseases, visit

About Accelerating Medicines Partnership (AMP):
AMP BGTC is one of many AMP programs expediting discovery around Alzheimer’s disease, Parkinson’s disease, schizophrenia, rheumatoid arthritis and lupus, type II diabetes, common metabolic diseases, heart failure, and autoimmune and immune-mediated diseases, all managed by the FNIH since the 2014 launch of the large-scale initiative. The AMP partnerships use cutting-edge scientific approaches to bring new medicines to patients through pre-competitive advancements in clinical target validation, data analytics, and consensus processes. To learn more about AMP, visit

About the Foundation for the National Institutes of Health:
The Foundation for the National Institutes of Health (FNIH) builds public-private partnerships that connect leading biomedical scientists at the National Institutes of Health (NIH), life sciences companies, foundations, academia, and regulatory agencies, including the Food and Drug Administration and European Medicines Agency. Through team science, we solve complex health challenges and accelerate breakthroughs for patients, regardless of who they are or what health challenges they face. The FNIH accelerates new therapies, diagnostics, and potential cures; advances global health and equity in care; and celebrates and helps train the next generations of scientists. Established by Congress in 1990 to support the mission of the NIH, the FNIH is a not-for-profit 501(c)(3) charitable organization. For more information about the FNIH, please visit

The Accelerating Medicines Partnership and AMP are registered service marks of the U.S. Department of Health and Human Services.

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