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The European Commission (EC) approves “Luxturna” (voretigene neparvovec), a recently developed gene therapy product to treat Leber congenital amaurosis (RPE65 mutations)

A commercial gene therapy company, Spark Therapeutics (NASDAQ:ONCE), announced that Committee for Medicinal Products for Human Use (CHMP), of the European Medicines Agency (EMA), has granted marketing authorization for “Luxturna” (voretigene neparvovec), the treatment of adult and pediatric patients with vision loss due to an inherited retinal dystrophy, Leber congenital amaurosis (LCA). Spark will manufacture and supply the treatment for Novartis with exclusive rights for development, registration and commercialization of Luxturna in all countries outside the U.S. According to the company, the EMA shall grant a full valid authorization of the product in all 28-member states of the EU, including Iceland, Liechtenstein and Norway. The first gene therapy treatment for a genetic disease has now received regulatory approval in both the U.S. and EU.


Recommendation of Luxturna, previously known as “SPK-RPE65” was secured on the company’s Phase III clinical trial data, which included data from an intent-to-treat population randomized over a 12-month time period. According to Spark, the clinical trial results showed “a statistically significant and clinically meaningful difference between intervention (n=21) and control participants (n=10) at one year, per the clinical trial’s primary endpoint, mean bilateral multi-luminance mobility testing (MLMT) score change (difference of 1.6; 95% CI, 0.72, 2.41; p =0.001).” The company additionally announced that treated patients had a “marked difference compared to control participants across the first two secondary endpoints: full-field light sensitivity threshold (FST) testing averaged over both eyes (p =0.001) and the mobility test score change for the first injected eye (p =0.001).”   According to Mr. Ron Philip, Chief Commercial Officer at Spark Therapeutics, the company states that an “historic approval of LUXTURNA in Europe furthers our mission to challenge the inevitability of genetic disease around the world. Following the launch of LUXTURNA in the United States earlier this year, this decision makes LUXTURNA the first gene therapy for a genetic disease approved in both the U.S. and EU, a promising milestone for the many people living with genetic disease around the world”.


Spark analysts suggest that a price tag of $425,000 per eye may not be cost effective. According to a study, if one is to assume a 10- to 20- year benefit of treatment for 15-year-olds, and calculating only direct health care system costs, it indicates that for the standard cost-effectiveness threshold range the drug should be priced at between $152,612 and $216,738 per patient. This essentially translates into a 75-82% reduction in the price being requested by Spark. Obviously the calculus would change if one were to assume a 30+ year benefit, with treatment accessible from 3 year olds, in which case the current price of $850,000 over the lifetime use of the drug could, in particular scenarios, meet the relevant threshold range. Additional analyses that consider cost effectiveness for ultra-rare disorders with no other treatment options available indicated that for patients aged 15 years of age the current price of the Luxturna drug would need to be discounted by between 22% and 90% to meet relevant cost effectiveness thresholds. Spark has done considerable work with payors and insurers in an effort to obtain re-imbursement using a variety of innovative payment methods, including spreading the cost of the drug over multiple years and pegging the cost to the drug’s performance in a broader real world population. The commercial success of the drug remains to be seen over the next few years and the experience of Spark will be watched closely by many gene therapy and pharma companies assessing the actual, as opposed to the forecasted value, of gene therapy.