The National Eye Institute (NEI) seeks research co-development partners and/or licensees for the development of an AAV gene therapy for Leber Congenital Amaurosis caused by CEP290 mutations.

This technology includes an innovative gene therapy approach for treating Leber congenital amaurosis (LCA) caused by CEP290 mutations. LCA is a severe inherited eye disorder that leads to significant vision loss in infants, affecting approximately 20,000 individuals worldwide. Currently, there are no effective treatments available for LCA, particularly for the CEP290 mutation, which accounts for 20-25% of cases. Our research has identified a functional subunit of the CEP290 gene that can be effectively delivered to the retina using an adeno-associated viral (AAV) vector, overcoming the limitations of previous gene therapy attempts that struggled with the large size of the full-length CEP290 gene. This breakthrough offers hope for restoring vision in patients suffering from this debilitating condition.