PDE6A Gene Therapy for Retinitis Pigmentosa

Summary

The PDE6A gene encodes a subunit of the rod phosphodiesterase. The loss of this enzyme function leads to a chronically elevated cGMP level which causes an increased calcium inflow into the cell and thereby the hyperactivation of cell death pathways. The goal of the PIGMENT study is to develop, produce and investigate a recombinant adeno-associated viral (AAV) gene transfer vector for the curative therapy of PDE6A-linked retinitis pigmentosa in patients, in order to counteract their disease progression and to stop further impairment of visual function. The vector is given with a single subretinal injection.

Timeline

Start

2019-09-24

Primary completion

2027-07

Completion

2027-07

Publications

• Seitz IP, Wozar F, Ochakovski GA, Reichel FF, Korte S, Korbmacher B, Wilhelm B, Susskind D, Bartz-Schmidt KU, Fischer MD, Peters T; RD Cure Consortium. Ocular Safety and Toxicology of Subretinal Gene Therapy With rAAV.hPDE6A in Nonhuman Primates. Transl Vis Sci Technol. 2025 Jan 2;14(1):29. doi: 10.1167/tvst.14.1.29.

Drugs

Indications