The definition of a rare disease in the U.S. is under 200,000 patients. The 10 per cent of Americans living with a rare disease is equivalent to 30 million people. Put another way, that is close to the entire population of Canada (at 39 million). There are 7,000 – 10,000 rare diseases in the U.S. (statistics vary) and most are single gene disorders. Almost half, at 40 per cent, have fewer than 50 patients. Unfortunately there is little financial incentive to develop treatments for rare diseases so a new paradigm is needed.
In December 2022, the Foundation for the National Institutes of Health (FNIH) launched a new venture – the Bespoke Gene Therapy Consortium, or BGTC – to do the following:
- Make adeno-associated virus (AAV) technology more accessible in a broader range of diseases.
- Accelerate the potential to streamline preclinical and product testing.
- Facilitate scientific and regulatory advances that will ultimately benefit the entire field.
- Bring gene therapies to all individuals in need sooner.
Peter Marks, director of the Center for Biologics Evaluation and Research (CBER) at the Food and Drug Administration, explains (in the video below) that the model being followed by the BGTC will lower costs and increase efficiency by repeatedly using the same manufacturing processes and regulatory filings. This “ultimately gets medicines to patients in need faster.” This could be the roadmap we need to overcome some of the current challenges of financial and operational hurdles.
Terry Pirovolakis would approve of this approach. In March of this year, I blogged about his family’s remarkable fundraising efforts to support research for his son’s spastic paraplegia 50 (SPG50), and we featured his son’s story in CCRM’s 2023 corporate video. It is very moving. Further, Pirovolakis has formed a company, which is no longer in stealth mode, called Elpida Therapeutics. It has ambitious plans to take five gene therapies to the clinic.
At the time I spoke to Pirovolakis he said: “Given the history of biotech companies retracting from rare disease programs and shelving other programs, we are confident in our ability to access a pipeline of future potential programs. We believe our social purpose corporation model allows us to balance re-investment into more programs and [provide] equitable and fair access to therapeutics for disease indications with very small patient populations.”
I was delighted to read the announcement, on May 16, 2023, that the BGTC has chosen eight rare diseases for its clinical trial portfolio, SPG50 being one of them. The plan is to demonstrate a new way to develop gene therapies for rare diseases by showing that “manufacturing and testing standards can provide a streamlined approval pathway for first in-human clinical trials.” The BGTC will share templates and instructions for free for anyone to follow. Here is the list of diseases:
- 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
Pirovolakis is quoted in the news release saying: “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. The BGTC offers potential pathways and hope for children with no other options.”
I’m certain this news was met with a great deal of excitement. If the BGTC is successful, the life sciences and health care community can start to knock off rare diseases one at a time. As per the news release, “The BGTC has more than [US] $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.”
Philip J. Brooks, acting director of the division of rare diseases research innovation at NIH’s National Center for Advancing Translational Sciences (NCATS) told Rare Disease Advisor “only about 600 of the 7000 or so known rare diseases have approved therapies—meaning that at current rates, it would take about 2000 years to find treatments for all of them.” What a thought. At least now there is hope for patients and their families.
As Pirovolakis stated in the CCRM corporate video, “I think that if we step up as a government and as a country, and we say that this is too important to ignore then we’ll get there.”
Learn more about the BGTC here:
Stacey Johnson
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