Research Consortium Tackles Gene Therapies for Rare Diseases

The Food and Drug Administration (FDA) and National Institutes of Health (NIH) have launched a new consortium to accelerate the development of gene therapies for the estimated 30 million Americans who suffer from “rare diseases,” which are defined in the United States as diseases affecting fewer than 200,000 people.

There are approximately 7,000 such diseases, and most stem from a specific gene mutation, yet only two currently have FDA-approved gene therapies. The new Bespoke Gene Therapy Consortium (BGTC), formed in partnership with 15 pharmaceutical companies nonprofits such as the American Society of Gene Therapy, aims to improve that equation by using standardized models to streamline the development of gene therapies so they are less expensive, time-consuming, and complicated to produce. Together, the consortium partners will invest $76 million in the effort over five years.

“There are now significant opportunities to improve the complex development process for gene therapies that would accelerate scientific progress and, most importantly, provide benefit to patients by increasing the number of effective gene therapies,” said NIH Director Francis S. Collins.

A top priority for the consortium will be to improve understanding of the basic biology of a common gene delivery technology known as the adeno-associated virus (AAV). Researchers will study the biological and mechanistic steps involved in producing and delivering the genes into human cells, and how to activate them. The program will develop a standard set of tests that promise to be broadly applicable to developing these viral tools, with a clinical component of the research supporting trials for four to six rare diseases.

“Rare diseases affect 25 to 30 million Americans, but because any given rare disorder affects so few patients, companies often are reluctant or unable to invest the years of research and millions of dollars necessary to develop, test, and bring individualized gene therapy treatments for a single disease to market,” said Joni L. Rutter, acting director of NIH’s National Center for Advancing Translational Sciences (NCATS). “The BGTC aims to make it easier, faster, and less expensive to pursue bespoke gene therapies in order to incentivize more companies to invest in this space and bring treatments to patients.”