Genzyme Collaborates On Gene Therapy For Rare Disease That Causes Childhood Blindness

Genzyme, a Sanofi company SAN, today announced the establishment of 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.

“Genzyme is a very collaborative partner and has been wonderful to work with,” said Dr. Boye. “We share a heartfelt commitment to helping LCA-1 patients and their families and to pursuing a treatment building upon prior, promising non-clinical studies.”

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.

“This research is both very promising and very important,” said Abraham Scaria, Senior Scientific Director and Project Leader for the LCA-1 program. “We are excited by the prospect of what this treatment would mean for children diagnosed with this disease.”

Treating physicians of LCA-1 patients from the University of Pennsylvania are also playing a key role in this research. They provide information to the University of Florida and Genzyme about indicators to look for in trials to know whether or not the therapy is working. They are also conducting a natural history study, which tracks how the retina of an LCA-1 patient progresses over time if untreated.

“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,” said Rich Gregory, Ph.D., Head of the Sanofi Genzyme R&D Center. “Together, we are striving to provide new hope to children who might not otherwise be able to see.”