In a somewhat unexpected December announcement, the FDA has approved Spark Therapeutics’ one-time Luxturna (voretigene neparvovec) gene therapy for treating children and adults with progressively blinding inherited retinal dystrophies. Though approval was not expected until January, it was considered to be something of a formality following a unanimous 16-0 vote by an FDA advisory panel in October. Luxturna is the first-ever gene therapy for a genetic disease to be approved in the United States.

Attention now turns to the critical issue of pricing Luxturna, which Spark is expected to address in the near future and which some analysts have placed at approximately $1 million. One idea put forward by the company is to receive annual payments as long as the treatment remains effective, thus spreading out the cost to payers over a period of years. Spark says it has been talking to payers in recent months regarding possible pricing policies. "Today’s landmark approval of Luxturna is a moment decades in the making for the field of gene therapy, the inherited retinal disease (IRD) community, and most importantly, patients with biallelic RPE65 mutation associated retinal dystrophy who now have the option to seek treatment," said Jeffrey D. Marrazzo, CEO of Spark Therapeutics. “During the more than 12 years of innovative research with dedicated collaborators near and far, I’ve witnessed the dramatic improvement in vision in many patients who would have otherwise lost their sight,” said Jean Bennett, MD, a key and pioneering researcher in the development of Luxturna and professor of ophthalmology at the University of Pennsylvania’s Scheie Eye Institute. “I believe that the success of the Luxturna clinical development program will pave the way for the development of other gene therapies, that may help the millions of patients with genetic diseases who currently have limited or no treatment options.”

Voretigene neparvovec is a single-treatment gene therapy using an adeno-associated virus (AAV) as a delivery platform for patients with viable retinal cells who have vision loss from confirmed biallelic RPE65 mutation-associated IRD. The Spark Biologic License Application included data from 3 clinical trials that enrolled participants with RPE65-mediated IRD, including the first randomized, controlled phase 3 trial for a gene therapy for a genetic disease.

Key to the FDA approval was the pivotal phase 3 trial that met its primary endpoint of improvement of functional vision in a 20-patient intervention group compared to a 9-patient control group, as measured by the change in bilateral mobility testing between baseline and 1 year. All patients in the control group then opted for intervention and 8 of those individuals also responded positively to treatment. Patients who received the therapy were successful in navigating a marked path in dim light, something they could not do at baseline testing. There were no serious adverse events reported. Luxturna will be manufactured at Spark Therapeutics’ manufacturing facility in Philadelphia, the first such licensed facility in the United States for a gene therapy treating an inherited disease. Luxturna is expected to be available for administration in selected treatment centers late in the first quarter of 2018, with doctors receiving surgical training on the administration procedure from Spark.

“This is the first of hopefully many gene therapy approaches to treat both IRDs and other retinal diseases. We look forward to helping our patients with these previously untreatable conditions.” said Peter Kaiser, MD, Chaney Family Endowed Chair for Ophthalmology Research with the Cole Eye Institute at Cleveland Clinic.