Gene therapy for Bestrophin-1 (BEST1) mutations in retinal degenerative diseases

This technology is an AAV-mediated BEST1 gene therapy for the treatment of retinal degenerative disorders associated with Bestrophin-1 (BEST1) dominant mutations.

Unmet Need: Treatment for retinal degenerative diseases

Over 250 genetic mutations that cause retinal degenerative disorders have been identified in the BEST1 gene. There is currently no cure for these diseases, and current treatment options for this disease, such as anti-VEGF therapy or laser photocoagulation, attempt to minimize further disease progression and retinal damage. Addressing the underlying cause of the disease (BEST1 mutations) would allow for better rescue of disease phenotype and restoration of vision in those affected by this disease.

The Technology: Gene therapy for retinal degenerative diseases

This technology is a gene therapy for Bestrophin-1 (BEST1) dominant mutations that are associated with certain retinal degenerative diseases. The gene therapy is comprised of a recombinant adeno-associated virus (AAV) vector encoding wild-type BEST1. This therapy can be delivered via subretinal injection to retinal pigment epithelial cells of the affected individual to increase wild-type BEST1 function in these cells.

This technology has been tested in patient-derived retinal pigment epithelial cells.

Applications:

• Gene therapy for retinal degenerative disorders caused by BEST1 dominant mutations

Advantages:

• Curative therapy
• Treatment for several retinal degenerative disorders
• Recues both BEST1 dominant and recessive loss-of-function mutations

Lead Inventor:

Stephen H. Tsang, M.D./Ph.D.

Patent Information:

Patent Pending(US 20220089670)

Related Publications:

*Ji C, Li Y, Kittredge A, Hopiavuori A, Ward N, Yao P, Fukuda Y, Zhang Y, Tsang SH, Yang T. “Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations” Sci Rep. 2019; 9: 19026.

*Zhao Q, Kong Y, Kittredge A, Li Y, Shen Y, Zhang Y, Tsang SH, Yang T. “Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations” eLife. 2021; 10: e67622.

Tech Ventures Reference:

• IR CU21279

• Licensing Contact: Kristin Neuman