For many rare diseases, gene therapy, not traditional therapeutics, is perhaps the only means to significant relief and cure. However, the path to gene therapy has been strewn with obstacles both scientific and regulatory.
Today the Foundation for the National Institutes of Health announced at the American Society of Gene & Cell Therapy 26th Annual Meeting that they have chosen 8 ultra-rare diseases to begin clinical trials. The aim of the project is not only to benefit those with these eight rare conditions but to build both a scientific and regulatory playbook that is open to all to make it easier for to navigate the manufacturing and the approval of gene therapies.
Patient Worthy had the privilege of interviewing Dr. Courtney Silverthorn, Associate Vice President of Science Partnerships at the Foundation, regarding the goals of the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium- AMP BGTC-. She explained that the project began by considering 62 rare conditions nominated through 33 member organizations, 11 National Institutes of Health Centers 12 life science companies, and 10 non-profit organizations for readiness and suitability for such trials and lacking available treatment. While only 8 conditions will begin this project, the project is really focused not on specific disease but on the creation of a template or platform that can be emulated for other diseases.
The eight rare diseases which will comprise these initial first in human trials 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
These eight conditions include rare diseases of the eye, as well as a neurological disease and a systemic disease. All of the selected diseases have existing contact registries in addition to one or more patient advocacy groups. Patient registries are really a key element for the development of natural histories and for clinical trials.
This initiative should make gene therapy more quickly available for many more of the 10,000+ rare conditions, many of which have small populations across the globe.
Perhaps in as soon as a year, patients might be expected to be able to enroll in these trials. For more information go to: https://fnih.org/BGTC.
