Foundation Fighting Blindness Applauds Phase 3 Study Results for Investigational Gene Therapy Treatment

October 05, 2015

Spark Therapeutics today announced positive top-line results from a Phase 3 pivotal trial of SPK-RPE65, an investigational gene therapy product for the treatment of RPE65-mediated inherited retinal dystrophies (IRDs). This research was funded in part by the Foundation Fighting Blindness, the world’s largest private funder of early, translational and clinical-stage research for blinding retinal diseases.

The Phase 3 trial met its primary endpoint, with patients receiving SPK-RPE65 demonstrating improvement of functional vision in the intervention group compared to the control group, as measured by the change in bi-lateral mobility testing between baseline and one year. These results represent the first successful randomized, controlled Phase 3 trial completed in gene therapy for a genetic disease.

IRDs are a group of rare blinding diseases that are caused by mutations in one of more than 250 genes, leading to visual impairment. These diseases include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), both of which can cause progressive and total blindness.

“We are thrilled with the results from this study and applaud Spark Therapeutics and a long list of collaborators, including the National Eye Institute, on their commitment to the pursuit of innovative therapies that could save or restore sight for those living with these diseases,” said Gordon Gund, chairman and co-founder of the Foundation Fighting Blindness. “With more than four decades of investment in basic, translational and clinical research, we are committed to driving research and extending our expertise to partners working to accelerate treatments needed to continue the fight against blindness.” 

Retinal diseases are very complex and genetically diverse, and extensive research is required to better understand the role genes play in these diseases. Inherited rare retinal degenerations affect approximately 200,000 people in the United States. Through early- and translational-stage research funded in part through the Foundation Fighting Blindness, researchers now better understand the many causes of these rare retinal degenerations, as well as age-related macular degeneration, which affects more than 10 million individuals in the U.S. alone.

Foundation Fighting Blindness-funded research into these conditions are achieving remarkable success in the study of a wide range of promising therapies, including gene therapy, retinal cell transplantation, neuroprotection and pharmaceutical and nutritional therapies.

“The Foundation Fighting Blindness has played a key role in advancing gene therapy for the treatment of rare retinal diseases, including the identification of more than 250 genetic variations causing several rare retinal diseases,” said Stephen Rose, chief research officer of the Foundation Fighting Blindness. “It is now more important than ever that we continue to explore and invest in scientific advancements such as SPK-RPE65 that can address the unmet needs faced by those living with these devastating diseases.”

Spark Therapeutics also announced today that it intends to file a Biologics License Application (BLA) with the U.S. Food and Drug Administration (FDA) in 2016.