- The Foundation for the National Institutes of Health has selected eight rare diseases for its gene therapy research partnership with drugmakers and nonprofits aimed at speeding new therapies’ path to clinical trials.
- Launched in 2021, the Bespoke Gene Therapy Consortium has chosen to focus on three ocular, three neurological and two systemic rare conditions from an initial list of 62 nominated diseases, it said Tuesday.
- 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.
After decades of setbacks and slow progress, gene therapies for inherited diseases are entering commercial markets at an accelerating pace. Since 2017, the U.S. has approved five such therapies, with three cleared since August, and several more up for Food and Drug Administration decisions this year.
While the progress is considerable, the treatments cover only a small fraction of about 4,000 single-gene rare diseases that could be treated by gene therapy.
A major challenge is the complexity, time and cost of developing, testing and producing gene therapies — as underscored by the long path for biotechnology company Bluebird bio to win approvals of two therapies and the close vote last week by a panel of FDA advisers to back biotech Sarepta Therapeutics’ treatment for Duchenne muscular dystrophy.
The public-private consortium, with nearly $100 million in financial and in-kind commitments from more than 30 organizations, government agencies and companies, aims to speed the process for developing therapies that use adeno-associated viral vectors, or AAVs.
“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, the associate vice president of science partnerships at the foundation.
Also among the selected diseases were rare eye conditions known as congenital hereditary endothelial dystrophy and retinitis pigmentosa 45, the neurological disorder spastic paraplegia 50, and two systemic conditions known as Morquio A Syndrome and propionic acidemia that affect the body’s ability to break down certain chemicals.
The consortium’s industry partners include large drugmakers like Biogen, Johnson & Johnson, and Pfizer, 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.
At least five gene therapies for rare diseases could be approved in the U.S. this year including potential treatments for sickle cell disease, Duchenne muscular dystrophy and hemophilia A.
Correction: A previous version of the story misstated how many partners the consortium has, and misidentified AbbVie as one.