Skip to content

Spark Therapeutics files rolling BLA with FDA for new gene therapy product to treat RPE-mediated retinal degeneration

Spark Therapeutics (NASDAQ:ONCE), Philadelphia, PA, has announced the filing of a rolling Biologics License Application (BLA) with the US FDA for their novel gene therapy treatment, “voretigene neparvovec”, for inherited retinal disease. The treatment, previously termed “SPK-RPE65”, is a replacement gene therapy treatment for RPE65-mediated inherited retinal degeneration. According to the company, the regulatory submission includes data from three clinical trials comprising 41 patients with RPE65mediated disease. A formal response is expected from the FDA within 60 days, following which, if deemed complete, the application will be considered as filed and a regulatory / data review process and timeline will be initiated. The company had previously announced that a pivotal trial, conducted in 31 patients, met its primary endpoint (p = 0.001), indicating improvement of functional vision in the treated patients, compared to the control subjects. Spark Therapeutics estimates that there are approximately 3,500 patients with RPE65-mediated disease in the United States and in the five major European markets.

In previous announcements Spark Inc., had provided summary results from a pivotal phase 3 trial of its voretigene neparvovec therapeutic, claiming a statistically significant improvement of vision in subjects that would otherwise become blind. In August 2016, the company announced further one-year follow-up data from the same trial on nine control subjects that crossed over to receive treatment, and in May 2017, the company were ready to submit their data to the FDA. Efficacy for the gene therapy is measured by a “multi-luminance mobility test”, or MLMT, and by full-field light sensitivity threshold testing, “FST”, from which the company report that subjects continue to experience “durable improvement over four years from time of administration, with observation ongoing”. In addition, the company has stated that the original intervention group (n = 20) has now demonstrated “sustained benefit two years post-treatment as measured by the bilateral MLMT.”


Commenting on the milestone, Jeffrey D. Marrazzo, Chief Executive Officer of Spark stated, “[C]ompletion of the rolling BLA is another step forward in our goal to bring this investigational gene therapy to people living with RPE65-mediated IRD who currently have no approved pharmacologic treatment options. We look forward to working closely with FDA, with the hope of bringing voretigene neparvovec, the first potential gene therapy for a genetic disease in the U.S., to patients as quickly as possible.” In the company’s quarterly report to he SEC, Spark additionally commented on their future roll out plans, subject to regulatory approval, stating: “We possess global rights to voretigene neparvovec. If approved, we intend to commercialize voretigene neparvovec globally, initially in the United States. We plan to employ small, targeted market development and medical affairs groups to build and promote access to the product through centers that specialize in treating IRDs. We believe that this approach is more patient-centered and will provide the foundation for future market development and medical affairs operations, particularly for additional gene therapy product candidates for IRDs. The five primary areas of our pre-launch efforts include patient identification, educating stakeholders, developing a high-quality delivery and distribution model, ensuring market access and building a patient centric organization.”