In a historic move, the U.S. Food and Drug Administration approved a gene therapy initially developed by researchers at the University of Pennsylvania and Children’s Hospital of Philadelphia for the treatment of a rare, inherited form of retinal blindness. The decision marks the nation’s first gene therapy approved for the treatment of a genetic disease, and the first in which a new, corrective gene is injected directly into a patient.
The therapy, known as LUXTURNA™ (voretigene neparvovec-ryzl), significantly improves eyesight in patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients with RPE65 mutations suffer from severe visual impairment at infancy or early childhood, and by mid-life become totally blind. They previously had no pharmacologic treatment options.
Spark Therapeutics, a Philadelphia biotechnology company created in 2013 by CHOP in an effort to accelerate the timeline for bringing new gene therapies to market, led the late-stage clinical development of LUXTURNA and built in West Philadelphia the first licensed manufacturing facility in the U.S. for a gene therapy treating an inherited disease.
Spark was built on the foundational research conducted over a 10-year period by CHOP’s Center for Cellular and Molecular Therapeutics. Those efforts were led by Jean Bennett, MD, PhD, the F.M. Kirby professor of Ophthalmology at the Perelman School of Medicine at the University of Pennsylvania and Penn’s Scheie Eye Institute, and Katherine A. High, MD, who directed the CCMT and now serves as Spark’s president and head of research and development. Albert M. Maguire, MD, a professor of Ophthalmology at the Perelman School of Medicine and an attending physician at CHOP, served as the principal investigator of the clinical trials which led to the FDA approval.
The approval is a culmination of more than 25 years of studies on congenital blindness by married-couple team Bennett and Maguire at Penn and CHOP, starting with pioneering work in mice and dogs.
“I’ve witnessed the dramatic changes in the vision of patients who would have otherwise lost their sight, and feel exhilarated that this therapy will now make a difference in the lives of more children and adults,” Bennett said. “I’m hopeful that the path we’ve made with this research, with the help of our collaborators near and far, will be useful to other groups, so that other gene therapies can be developed faster and help more people with other diseases.”