Problem: There currently is no cure for Achromatopsia which affects up to 1: 50,000 patients in the US. Solution:
Dr. Jean Bennett, MD, PhD, Kirby Professor of Ophthalmology at the University of Pennsylvania’s Perelman School of Medicine, one of the first investigators to develop a gene therapy for a rare inherited form of retinal blindness has developed a novel gene therapy for Achromatopsia, an inherited retinal degeneration characterized by the loss of cone photoreceptor function resulting in partial or total absence of color vision. Dr. Bennett and her team at Penn’s Center for Advanced Retinal and Ocular Therapeutics (CAROT) have developed an adeno associated viral vector for the delivery of an optimized CNGA3 gene. Mutations in the alpha subunit of the cone photoreceptor cyclic nucleotide-gated channel (CNGA3) genes underlie ~25% of Achromatopsia cases. When delivered to the retina of the CNGA3-/- mice, these constructs have shown a dose dependent expression in the targeted cone cells with minimal adverse effects on the rod function. Similar results in humans would offer a potential cure for Achromatopsia.
Stage of Development: A complete data package on the lead clinical candidate are available for review
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Docket #16-7660