In an initiative to develop a gene therapy for the treatment of Leber congenital amaurosis type 1 (LCA-1), a rare genetic disease that causes childhood blindness, Genzyme established a research collaboration with the University of Florida (UF) and the University of Pennsylvania.

Genzyme will provide $900,000 in funding over three years to Shannon Boye, Ph.D., assistant professor of ophthalmology at UF, whose research is focused on a gene called guanylate cyclase (GUCY2D) that is mutated in LCA-1 patients. According to Genzyme, 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.

The company said 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 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.

Most of the early-stage LCA-1 research is being conducted at UF. Genzyme will take on more activities as the program advances toward clinical trials. The company has the option to in-license the potential treatment before it enters clinical trials.

The University of Pennsylvania is also playing a role in this research. Physicians of LCA-1 patients from the university will provide information to UF and Genzyme about indicators to look for in trials. Genzyme said the University of Pennsylvania is also conducting a natural history study, which tracks how the retina of an LCA-1 patient progresses over time if untreated.








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