8 rare diseases selected for gene therapy trial portfolio

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gene therapy

The Foundation for the National Institutes of Health (FNIH) says 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) 26th annual meeting in Los Angeles.

Managed by the FNIH, 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, which 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, CEO of the FNIH. 

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

Which rare diseases will make the AMP BGTC gene therapy trial portfolio?

The eight rare 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

The eight were chosen based on a 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.

Potential pathways

“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 U.S. 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, 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 non-profit organizations. 

The FNIH is also active in other areas, such as the fight against cancer.

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