Rare Disease Research: NIH, FDA, Private Sector Collaborate

A single rare disease affects small numbers of people, but rare diseases collectively affect millions. NIH, FDA, 10 pharmaceutical companies and 5 nonprofit organizations have partnered to accelerate development of gene therapies for the 30 million Americans who suffer from a rare disease. While there are approximately 7,000 rare diseases, only 2 heritable diseases currently have FDA-approved gene therapies. 

The newly launched Bespoke Gene Therapy Consortium (BGTC), part of NIH’s Accelerating Medicines Partnership (AMP) managed by the Foundation for the National Institutes of Health (FNIH), aims to optimize and streamline the gene therapy development process to help fill the unmet medical needs of people with rare diseases.

“Most rare diseases are caused by a defect in a single gene that could potentially be targeted with a customized or ‘bespoke’ therapy that corrects or replaces the defective gene,” said NIH director Dr. Francis Collins. 

However, gene therapy development for rare diseases is highly complex, time-consuming and expensive. A standardized therapeutic development model that includes a common gene delivery technology (a vector) could allow for a more efficient, cost-effective approach to gene therapies.

To improve and accelerate the process, the BGTC program will develop a standard set of analytic tests to apply to the manufacture of viral vectors and support multiple clinical trials, each focused on a different rare disease. BGTC also will explore methods to streamline regulatory requirements and processes for FDA approval of safe and effective gene therapies.

NIH and private partners will contribute approximately $76 million over 5 years to support BGTC-funded projects, including about $39.5 million from the participating NIH institutes and centers, pending availability of funds. 

“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 Dr. Joni Rutter, NCATS acting director. “BGTC aims to…incentivize more companies to invest in this space and bring treatments to patients.”