Sanofi’s Genzyme has established a research collaboration with the University of Florida and the University of Pennsylvania to develop a gene therapy for the treatment of a rare genetic disease that causes childhood blindness. Leber congenital amaurosis type 1 (LCA-1) is usually diagnosed in children who are less than a year old, and patients remain severely visually impaired for the rest of their lives.

Genzyme is providing $900,000 in funding over three years to Dr. Shannon Boye, assistant professor of ophthalmology at the University of Florida, to fund her LCA-1 research. Dr. Boye's research is focused on a gene called guanylate cyclase (GUCY2D) that is mutated in LCA-1 patients. The GUCY2D gene normally makes GC1, a protein expressed in photoreceptors, which are located in the retina of the eye and convert light into electrical signals that the brain interprets as vision. Genzyme's funding supplements current funding from the Foundation Fighting Blindness.

The majority of the early-stage LCA-1 research is being conducted at the University of Florida, with Genzyme taking on increasingly more activities as the program advances toward clinical trials. Genzyme has the option to in-license the potential treatment before it enters clinical trials. The gene therapy is administered by inserting a healthy copy of the GUCY2D gene into the eye. The healthy gene is put into an adeno associated viral (AAV) vector whose viral DNA has already been removed. The viral vector is injected into the retina and transfers the healthy gene to the photoreceptors, with the goal of treating the disease with a single treatment.

Source: Genzyme