NIH foundation, partnering with research institutions, adds 8 rare diseases to clinical trial portfolio

The Foundation for the National Institutes of Health has added eight rare diseases to its gene therapy-focused clinical trial portfolio, betting that a public-private partnership can grease an oft-broken funding model. 

The new priorities announced Tuesday are grouped under the foundation’s Bespoke Gene Therapy Consortium, a collaboration with biotechs, pharmas and non-profits to accelerate drug development for rare diseases. The eight diseases being added to the 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 foundation says one of the objectives of the consortium, beyond developing new drugs, is accelerating the regulatory process by “establishing minimum standards for manufacturing, product analytical testing and pre-clinical testing.”

“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 CEO of Elpida Therapeutics Terry Pirovolakis in a release. “The BGTC offers potential pathways and hope for children with no other options.” 

Elpida is the only biotech included among the latest institutions leading the clinical trials selected by the foundation, working in collaboration with the University of Texas Southern on a treatment for spastic paraplegia 50 and Charcot-Marie-Tooth disease type 4J. The other research institutions selected are the University of California, Los Angeles, Columbia, University of Pennsylvania, Children’s Hospital of Philadelphia, National Human Genome Research Institute and Nemour’s Children’s Health. 

“We were specifically trying to avoid any commercial interests,” said Brad Garrison, senior project manager of the consortium in an interview with Fierce Biotech. “Companies weren't strictly ineligible, but they would have to make a compelling case that they have no viable funding mechanism.” 

The foundation reports having almost $100 million in funding, across 11 NIH institutes, 12 biopharmas and 10 nonprofits. When asked what the foundation’s end goal is, Garrison said that’s, “the million-dollar question.” The consortium’s primary goal was funding development through phase 1/2 trials and further discussions will guide future access. 

“We've talked about different options, but I don't think anything is firm or finalized,” said Garrison. “And it might depend on the scenario for each disease and who has IP rights and things like that.” Some ideas have included launching a spin-off nonprofit to further develop the treatments or allow manufacturers the right of first refusal to take products forward, Garrison said, but nothing has been formally decided.