Sanofi company Genzyme announced that it has signed a research partnership with the University of Pennsylvania and the University of Florida for the development of a gene therapy that addresses the rare genetic disease Leber congenital amaurosis type 1 (LCA-1).
As part of the agreement, Genzyme will provide $900,000 in funds to support the LCA-1 research of Dr. Shannon Boye, assistant professor of ophthalmology at the University of Florida. The funding will supplement current financing for the research from the Foundation Fighting Blindness.
LCA-1 causes childhood blindness and is typically diagnosed in children before they reach their first year of age. Affected patients remain severely visually impaired thereafter. Dr. Boye’s research centers on the gene guanylate cyclase (GUCY2D), which is mutated in patients with LCA-1. GUCY2D’s function is to produce the protein GCI which is expressed in the eye’s photoreceptors. To correct the mutation, a healthy copy of the GUCY2D gene is inserted into the eye. The healthy gene is first inserted into an adeno associated viral (AAV) vector which has its viral DNA removed. The vector is then injected into the retina with the aim of correcting LCA-1 at its root.
Most of Dr. Boye’s early stage research currently takes place at the University of Florida. Genzyme is increasing its support of the program as it approaches clinical trials. The company holds the option to in-license the treatment before it gets the green light to undergo clinical trial investigation.
Abraham Scaria, Senior Scientific Director and Project Leader for the LCA-1 program, stated that the gene therapy research holds promise in the treatment of children diagnosed with the rare disease. Dr. Rich Gregory, Head of the Sanofi Genzyme R&D Center, said, “We are proud to partner with Dr. Shannon Boye and her team at the University of Florida, who are leading experts in the field of ocular gene therapy, as well as our clinical colleagues from the University of Pennsylvania, who are sharing important insights about LCA-1 patients’ needs. Together, we are striving to provide new hope to children who might not otherwise be able to see.”
Earlier this year Genzyme announced a similar research collaboration with Cleveland Clinic, this time for the development of new treatments for multiple sclerosis.