Pending FDA Approval for Leber's Congenital Amaurosis

[Michael Oberdorfer]

An advisory committee to the Food and Drug Administration will meet this week to consider a gene therapy approach for the treatment of Leber’s Congenital Amaurosis (LCA), a rare inherited retinal disease that causes severe visual impairment. The approach would use Luxturna (voretigene neparvovec,) a reagent developed by Spark Therapeutics.
LCA is caused by a mutation of the RPE65 gene. The approach delivers a subretinal injection of a normal RPE65 gene using an AAV vector. This approach has shown promise in a phase three clinical trial with 31 human subjects at the Children’s Hospital of Philadelphia and the University of Iowa. This work is based in part on earlier work on a mouse model at the Jackson Labs and the Whenzhou Medical University, Wenzhou, PR China.

If approved, it would become the first gene therapy for the treatment of an inherited disease in the United States.