Research Investment from Foundation Fighting Blindness Supports Emerging Company to Bring Gene Therapy for Rare Blinding Disease Closer to Reality

Spark Therapeutics, a gene therapy company developing an investigational gene therapy for people living with RPE65-mediated inherited retinal diseases, is currently in the process of completing its biological licensing agreement (BLA) with the U.S. Food and Drug Administration (FDA). If approved, it would be the first gene therapy for any genetic disease to be approved in the United States. The treatment involves delivering a functional copy of a mutated gene directly to the retina. The hypothesis is that this functional copy of the gene produces the necessary protein to slow the progression of disease and restore function in the retinal cells.

The story of this investigational treatment began in the mid-1990s, when retinal researchers at University of Pennsylvania led in part by Dr. Jean Bennett and Dr. Al Maguire envisioned gene therapy as a novel approach to treating inherited retinal diseases, with RPE65-associated conditions being good first candidates. Not only was the retina an accessible target, a single injection of gene therapy might have the ability to halt or reverse the disease process and, perhaps, work for a longer period of time.

The Foundation Fighting Blindness, the world’s leading private, nonprofit retinal research organization, has funded most of the genetic discoveries for retinal diseases, and immediately recognized the enormous opportunity for gene therapy to potentially change the course of blindness. They began funding RPE65 gene-therapy research at University of Pennsylvania, Children’s Hospital of Philadelphia (CHOP), and other institutions shortly after the gene was identified in 1993.

Altogether, FFB invested $10 million for RPE65 lab and clinical research. Thanks in part to that funding, CHOP, under the leadership of Dr. Kathy High, launched an RPE65 gene-therapy clinical trial in 2007. In a few months, the first participants treated in the early, safety-oriented Phase I clinical study demonstrated clinically meaningful improvement as measured by both the multi-luminance mobility test (MLMT) and full-field light sensitivity threshold (FST) testing. Safety results in the clinical program have been consistent to date. 

In 2013, Spark Therapeutics was spun out of CHOP and is now an independent gene-therapy platform company. Their goal: to discover, develop, and commercialize gene therapies for retinal diseases and other conditions. Spark Therapeutics, now a publicly traded company, has since raised more than $500 million.

The Foundation’s early research investments have helped many researchers and companies like Spark Therapeutics advance groundbreaking research in retinal gene therapy and get ever closer to making these potential treatments a reality for the people who need them.