Bespoke Gene Therapy Consortium Selects 8 Rare Diseases for Clinical Trial Portfolio

Bespoke Gene Therapy Consortium Selects 8 Rare Diseases for Clinical Trial Portfolio

Regulatory agencies like the FDA have been placing a greater focus on accelerating approval processes for treatments, including gene therapies, for rare diseases.

The Foundation for the National Institutes of Health (FNIH) announced this week that the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium (AMP BGTC) has selected eight rare diseases for its clinical trial portfolio.

Among them are three ocular, three neurological and two systemic rare conditions, which were chosen from a starting list of 62 nominated diseases.

The diseases include a type of retinal degeneration caused by mutations to the NPHP5 gene; a neurological disorder called Charcot-Marie-Tooth disease type 4J that damages the peripheral nerves; and multiple sulfatase deficiency that affects the breakdown of sugars and fats.

The FNIH will focus on advancing clinical trials for the eight diseases through gene therapy research partnerships with the goal of accelerating the path of new therapies to clinical trials.

The Bespoke Gene Therapy Consortium was jointly launched by the NIH and US Food and Drug Administration (FDA) in 2021 to help address common issues that gene therapy developers face. It included formulating a standardized therapeutic development model that would help accelerate clinical trial processes for new treatments.

The Bespoke Gene Therapy Consortium is a public-private partnership between the two agencies, biopharmaceutical and life science companies as well as 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,” according to the FNIH.

In the past several years, gene therapies have finally been hitting the market after decades of setbacks and uncertainties. In 2022, the FDA approved four new gene therapies, and more than a handful are looking to get approval this year for diseases including Duchenne muscular dystrophy (DMD), sickle cell disease (SCD) and hemophilia A.

Related: Gene Therapy Clinical Trials for Rare Diseases: 5 Key Takeaways from FDA’s Recent Town Hall

“The BGTC offers promise for rare disease patients around the world,” said Julie Gerberding, MD, CEO of the FNIH, in the press release from the agency. “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 be part of the consortium’s clinical trial portfolio are:

  • Charcot-Marie-Tooth (CMT) 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 FNIH, which manages the Bespoke Gene Therapy Consortium, says the consortium aims to “streamline the regulatory approval process by establishing minimum standards for manufacturing, product analytical testing and pre-clinical testing.” This information will be made available to the public at no cost and will include a “playbook” outlining the development process.

The consortium has a particular focus on accelerating the development of therapies that involve the use of adeno-associated viral vectors (AAVs).

In the US, more than 30 million people live with a rare disease. Of the more than 10,000 rare diseases, more than 80 percent are caused by genetic defects.

Treatments, especially gene therapies, for rare diseases are complex to develop given the significant time and costs involved, the challenge of small patient populations in trials and the low commercial value for makers. As such, rare disease patients and their families often face little hope for effective treatments.

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The Bespoke Gene Therapy Consortium has more than $97 million in financial and in-kind commitments through partnerships with 33 member organizations that include 11 NIH institutes and centers, 12 life science companies and ten nonprofit organizations.

The consortium’s industry partners include Pfizer, Biogen and Johnson & Johnson, gene therapy specialists Spark Therapeutics and Regenxbio, and contract manufacturers like Thermo Fisher Scientific.

Nonprofit groups include the Alliance for Regenerative Medicine, the American Society of Gene and Cell Therapy, CureDuchenne, the National Organization for Rare Disorders and the National Institute for Innovation in Manufacturing Biopharmaceuticals.

Initiatives like the Bespoke Gene Therapy Consortium are among a growing number being launched by regulatory agencies, pharmaceutical companies and nonprofits. Last year, the FDA announced the Accelerating Rare diseases Cures (ARC) program and this year, the Rare Disease Endpoint Advancement (RDEA) Pilot Program, to support the accelerated development of novel drugs for rare diseases. The NIH has the Rare Diseases Clinical Research Network (RDCRN) program which provides support for rare disease clinical studies by facilitating collaboration, study enrollment and data sharing.