Genzyme Investment Boosts Development of Sight-Saving Gene Therapy

September 26, 2014

An emerging gene therapy research project for a blinding retinal disease that strikes children is receiving $900,000 from Genzyme, an international pharmaceutical company. Over the last seven years, the Foundation Fighting Blindness (FFB) has committed more than $1.5 million to the development of the sight-saving gene therapy for a condition called Leber congenital amaurosis, or LCA, caused by mutations in the gene GUCY2D.

Led by Shannon Boye, Ph.D., the project is a collaboration of Genzyme, the University of Florida, and the University of Pennsylvania. The current goal of the research is to move the GUCY2D treatment out of the laboratory and into a clinical trial.

Dr. Stephen Rose, chief research officer of the Foundation Fighting Blindness, said the Foundation is delighted by Genzyme’s investment in the GUCY2D gene therapy. “The company’s support will help get the treatment out to the people who desperately need it,” he added. 

The FFB has been instrumental in supporting this project from the very beginning,” said Dr. Boye. “It's a great example of their commitment to fund early translational research, which shows real promise for clinical application. My team and I are excited to move forward with FFB and Genzyme to develop what we all hope will be a transformative treatment for this debilitating form of blindness."

The treatment involves delivery of normal copies of the gene GUCY2D to replace the mutated copies in the patients’ photoreceptors, the cells in the retina that make vision possible. The therapeutic genes are inserted into a human-engineered virus, which is able to readily penetrate the photoreceptors with its cargo. The treatment is contained in a tiny drop of liquid, which is injected underneath the retina. Researchers believe a single treatment will work for several years — perhaps the patient’s entire life.

“Though it is still at a relatively early stage of evaluation in clinical trials, gene therapy has performed very well thus far for a number of retinal diseases,” Dr. Rose said. “In fact, it has restored significant vision in children and young adults with LCA caused by mutations in RPE65.”

According to Rose, the University of Florida is performing much of the GUCY2D gene therapy development, while the University of Pennsylvania is conducting natural history studies to better understand how the disease progresses in people, and at the same time, identify potential participants for a future clinical trial.