Spark Therapeutics has taken a major step closer to gaining marketing approval for its vision-restoring gene therapy for people with RPE65 mutations causing Leber congenital amaurosis (LCA) and retinitis pigmentosa. At the conclusion of a public hearing on October 12, 2017, an advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval. The FDA is due to make a final decision on marketing approval for the treatment, known as voretigene neparvovec, by January 12, 2018.
The event held at FDA headquarters included the presentation of trial results from Spark representatives, as well as compelling testimony from patients, family members, and industry stakeholders.
Twenty-four-year-old Katelyn Corey told hearing attendees that before receiving the treatment, her constant adaptation to dwindling vision didn’t leave time for much else in her life. But her circumstances changed dramatically in December 2013, after she received the RPE65 gene therapy in Spark’s Phase III clinical trial.
“Within days, I could see vibrant colors. I could even see the Philadelphia City Hall clock tower at night,” she said. “Also, I can go to a restaurant and see everything by candlelight, and I can see stars in the night sky.” Katelyn recently earned a master’s degree in epidemiology and works as a research analyst for the U.S. Department of Veterans Affairs.
Eleven-year-old Cole Carper, the youngest speaker at the hearing, said he loves playing with Legos now that he has better vision thanks to the gene therapy. His 13-year-old sister, Caroline, who was also in Spark’s Phase III study, enjoys reading print books instead of Braille. She’s also preparing for a role in the play “Shrek”- something her mom, Ashley, said would have been very difficult before treatment.
Cole and his mom were headed down to the National Mall in Washington, D.C., after the meeting to take in the sites. Cole was especially looking forward to checking out the Spy Museum.
The Foundation’s own chief research officer, Dr. Stephen Rose, also gave testimony at the hearing. “The approval of this gene therapy will be life-changing for people with severe vision loss due to RPE65 mutations,” he said. “FDA approval of this groundbreaking treatment would provide strong momentum for the advancement of several other vision-saving gene therapies under development in labs and clinics around the world.”
If approved, voretigene neparvovec has the potential to be the first FDA-approved gene therapy for the eye and for any inherited disease. The investigational treatment, the result of more than two decades of research and development, delivers functional copies of the RPE65 gene directly into the retina thereby compensating for nonfunctional, mutated copies. FFB was an early financial supporter of that work, investing $10 million for RPE65 lab and clinical research.
“FFB applauds the investigative teams at the University of Pennsylvania, University of Florida, Children’s Hospital of Philadelphia, and Spark Therapeutics for bringing the therapy into and through clinical trials that have demonstrated safety and strong efficacy,” added Dr. Rose