Spark Therapeutics’ vision-restoring RPE65 gene therapy has received marketing approval from the U.S. Food and Drug Administration, becoming the first gene therapy to gain regulatory approval in the U.S. for the eye or any inherited condition.
Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65. Study participants with severe vision loss reported putting away their navigational canes, seeing stars, being able to read, and recognizing faces of loved ones. Vision restoration has persisted for at least three years. The treatment is also designed to work for people with retinitis pigmentosa (RP) caused by RPE65 mutations.
On October 12, 2017, an FDA Advisory Committee voted 16 to 0 in recommending marketing approval for LUXTURNA.
The Foundation Fighting Blindness invested about $10 million in more than a decade of lab research that made possible the RPE65 gene therapy clinical trial at the Children’s Hospital of Philadelphia (CHOP). FFB-funded research included: studies to understand the role of RPE65 in vison and retinal disease, development of animal models with RPE65 mutations, RPE65 gene therapy testing and development, and support for early clinical research at CHOP.
“This is truly a historical moment in the fight against blindness. We are delighted by the FDA’s approval of LUXTURNA for people with RPE65 mutations,” says Stephen Rose, PhD, chief research officer at FFB. “LUXTURNA’s approval also provides affirmation that gene therapies can be a safe, effective, and commercially viable approach to treating many forms of blindness, providing a big boost to an already burgeoning field. The approval is great news for a broad spectrum of people with inherited retinal diseases.”
Retinal gene therapy clinical trials are underway for people with a wide range of retinal diseases including: X-linked RP, choroideremia, Usher syndrome type 1B, Stargardt disease, X-linked retinoschisis, and achromatopsia.
More than 10 million people in the U.S., and millions more around the world, have retinal degenerative diseases.
“We are thrilled for the patients whose lives will change because of this treatment,” says David Brint, Foundation Fighting Blindness chairman. “And we are also pleased to have this concrete example of the strength of the Foundation’s strategy of investing early in promising treatments in order to attract later industry investment that can usher the treatments through clinical trials and FDA approval.”
“LUXTURNA will be life changing for people with RP and LCA caused by RPE65 mutations. For them, the treatment may well mean the difference between relying on assistive technologies or other people and living a life of independence. Also important is the momentum this approval provides to other gene-based therapies — for the eye and other diseases — now in the pipeline,” says Benjamin Yerxa, PhD, Foundation chief executive officer.
The LUXTURNA gene therapy involves injection of healthy copies of RPE65 underneath the retina. The RPE65 copies are contained in a human-engineered virus — known as an adeno-associated virus or AAV — which is designed to readily penetrate retinal cells to deliver the therapeutic genetic cargo. A single treatment is expected to last several years.
Spark Therapeutics, which holds the biologics license for LUXTURNA and conducted the clinical trials that showed its safety and efficacy, will also manage the treatment rollout. Spark has announced that in order to ensure the treatment is safely administered, it will only be available through a small number of centers of clinical excellence around the country. Spark has also expressed its commitment to educate third-party payers about the value of LUXTURNA and to work to help ensure treatment access to all eligible patients.