The Foundation for the National Institutes of Health Announces Selection of Eight Rare Diseases for the Bespoke Gene Therapy Consortium Clinical Trial Portfolio

New approach aims to make clinical trials for gene therapies more efficient, less expensive, and more accessible to patients with rare genetic diseases

Today, the Foundation for the National Institutes of Health (FNIH) announces the Accelerating Medicines Partnership® Bespoke Gene Therapy Consortium (AMP® BGTC) has selected eight rare diseases for its clinical trial portfolio. This portfolio pioneers a novel approach to gene therapy development for rare diseases by demonstrating that manufacturing and testing standards can provide a streamlined approval pathway for first-in-human clinical trials. The announcement comes during the first day of the American Society of Gene & Cell Therapy (ASGCT) 26^th Annual Meeting in Los Angeles.

Managed by the Foundation for the National Institutes of Health, AMP BGTC is a public-private partnership between the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA), biopharmaceutical and life science companies, and nonprofit and other organizations to help speed the development and delivery of customized, or ”bespoke” gene therapies, that could treat the millions of people affected by rare diseases. BGTC aims to streamline the regulatory approval process by establishing minimum standards for manufacturing, product analytical testing and pre-clinical testing. All of this information will be provided to the public with standard templates and an instructional “development playbook” at no cost.

“The BGTC offers promise for rare disease patients around the world,” said Julie Gerberding, M.D., M.P.H., CEO of the Foundation for the National Institutes of Health. “The announcement of its clinical trial portfolio is an important milestone, bringing people with rare genetic diseases one step closer to approved therapies.”

The eight diseases that will make up the clinical trial portfolio are:

• Charcot-Marie-Tooth disease type 4J
• Congenital Hereditary Endothelial Dystrophy
• Morquio A Syndrome
• Multiple Sulfatase Deficiency
• NPHP5 Retinal Degeneration
• Propionic Acidemia (PCCB)
• Retinitis pigmentosa 45
• Spastic paraplegia 50

These selections were made based on rigorous scientific and technical review by a panel of gene therapy experts using the BGTC’s established criteria. These criteria include, but are not limited to, the adequacy of the gene for insertion into an adeno-associated virus (AAV) vector, sufficient proof of concept and natural history data, the existence of an established disease model, a lack of available treatment and an overall readiness for entering into a clinical trial.

“As the parent of a child with a rare disease, it has been a long and difficult journey to research and test a safe, effective treatment,” said Terry Pirovolakis, patient advocate, founder of CureSPG50 and CEO of Elpida Therapeutics. “The BGTC offers potential pathways and hope for children with no other options.”

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, and more than 80% of those are caused by genetic defects. Rare disease patients and their families often suffer without hope of treatment, as many rare diseases are overlooked due to their small patient populations and limited commercial viability.

“With this clinical trial portfolio, we can build the bridge that creates a standardized and publicly available roadmap for all AAV gene therapies to follow, with repeatable solutions for templates, regulatory files and manufacturing processes,” said Courtney Silverthorn, Ph.D, Associate Vice President, Science Partnerships, at the FNIH. “A single rare disease can affect hundreds of thousands of people globally, or merely a few dozen, and the BGTC aspires to make gene therapies more accessible and sustainable no matter the size of the patient population.”

The BGTC has more than $97 million in financial and in-kind commitments from its partnership with 33 member organizations, spanning 11 NIH institutes and centers, 12 life science companies and 10 nonprofit organizations. For more information about the BGTC program and to learn more about these diseases, visit https://fnih.org/BGTC.

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 https://fnih.org/AMP.

About the Foundation for the National Institutes of Health: The Foundation for the National Institutes of Health (FNIH) connects the world’s leading public and private organizations to accelerate biomedical breakthroughs for patients, regardless of who they are, where they live or what disease they have. Together with leading scientists and problem-solvers, and a successful track record of navigating complex problems, the FNIH accelerates new therapies, diagnostics, vaccines and potential cures; advances global health and equity in care; and celebrates and trains the next generation 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 fnih.org.

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“The announcement of its clinical trial portfolio is an important milestone, bringing people with rare genetic diseases one step closer to approved therapies.” -- Dr. Julie Gerberding