Gene Therapies for Rare Diseases

NIH, FDA, 10 pharmaceutical companies, and five non-profit organizations have partnered to accelerate development of gene therapies for 30 million Americans who suffer from a rare disease.

Most rare inherited diseases stem from a specific gene mutation that is already known, making gene therapy a promising therapeutic approach. However, gene therapy development for rare diseases is highly complex, time consuming, and expensive.

Also, the development process limits access to tools and technologies and there is a lack of standards across the field. 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.

There are approximately 7,000 rare diseases, but only two heritable diseases currently have FDA-approved gene therapies. The Bespoke Gene Therapy Consortium’s (BGTC) part of the NIH Accelerating Medicine Partnership (AMP) program, has the goal to optimize and streamline gene therapy development to help people with rare diseases.

The BGTC is going to develop a standard set of analytic tests to apply to the manufacture of viral vectors made by consortium researchers. Development of the tests could be broadly applicable to different manufacturing methods and make the process of developing gene therapies for very rare conditions much more efficient.

NIH and private partners will contribute about $76 million over five years to support BGTC funded projects. NCATS which developed the Platform Vector Gene Therapy program is NIH’s lead institute for BGTC and expects to contribute about $8 million over five years.

Go to for more information on the Bespoke Gene Therapy Consortium (BGTC).

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