New NIH Program Aims to Increase Gene Therapies for Rare Diseases

To accelerate the development of gene therapies for the 30 million Americans who have been diagnosed with a rare disease, in October 2021 the National Institutes of Health (NIH), U.S. Food and Drug Administration (FDA), 10 pharmaceutical companies, and five nonprofit organizations announced the creation of the Bespoke Gene Therapy Consortium (BGTC). The consortium is optimizing and streamlining 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,” NIH Director Francis Collins, MD, PhD, said. “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.”

According to the National Institutes of Health (NIH), of the approximately 7,000 rare diseases, only two heritable diseases have FDA-approved gene therapies. Because of the small patient population, gene therapy development for rare diseases can be time consuming and expensive, and the development process is limited because of a lack of access to tools and technologies. However, NIH reported that “a standardized therapeutic development model that includes a common gene delivery technology (a vector) could allow for a more efficient approach to specific gene therapies, saving time and cost.”

Because of this, BGTC is streamlining the gene therapy development process, including regulatory requirements and processes for FDA approval of safe and effective gene therapies for patients with rare diseases. The consortium is also improving the understanding of the adeno-associated virus (AAV), a common gene delivery vector, to learn how to improve efficiency of vector manufacturing and enhance the benefits of AAV gene therapy. The program’s rare disease clinical trials will employ different types of AAV vectors.

“By leveraging on experience with a platform technology and by standardizing processes, gene therapy product development can be accelerated to allow more timely access to promising new therapies for patients who need them most,” FDA’s Center for Biologics Evaluation and Research Director Peter Marks, MD, PhD, said.

Approximately $76 million is earmarked to fund the program over five years, which includes $39.5 million from participating NIH institutes. The National Center for Advancing Translational Sciences, an organization that developed the Platform Vector Gene Therapy program, contributed another $8 million in funding.