AAV-RPE65 is a gene therapy product candidate in which expression of a codon-optimized RPE65 gene is driven by a novel synthetic retinal pigment epithelium (a thin layer of cells at the back of the eye) cell-specific promoter. The RPE65 protein is essential for rod function because it recycles the light sensing machinery in rod photoreceptors. The codon and vector optimization resulted in a gene therapy that is 100 to 1,000 times more potent than the first generation therapy.

We are currently conducting a Phase 1/2 clinical trial of AAV-RPE65 in both adult and pediatric patients with RPE65-deficiency.

The FDA and EMA each granted orphan status to AAV-RPE65 for the treatment of Leber’s Congential Amaurosis (LCA). The FDA also granted AAV-RPE65 rare pediatric disease designation for the treatment of inherited retinal dystrophy due to biallelic RPE65 mutations.