Our Scientific Platform and Programs

Our most advanced investigational candidate, LUXTURNA™ (voretigene neparvovec), has completed the pivotal portion of a Phase 3 clinical trial for the treatment of confirmed biallelic RPE65-mediated inherited retinal disease (IRD). IRDs, a group of rare eye disorders caused by an inherited gene mutation, can result in vision loss or blindness. LUXTURNA™ has orphan drug, breakthrough therapy and rare pediatric disease designations in the United States. It also has orphan designations in the EU. The U.S. Food and Drug Administration (FDA) accepted our Biologics License Application (BLA) submission for filing with Priority Review in July 2017. We submitted our Marketing Authorization Application (MAA) to the European Medicines Agency (EMA) for review in July 2017.

Spark Therapeutics is advancing an open-label, dose-escalating Phase 1/2 trial designed to assess the safety and preliminary efficacy of subretinal administration of investigational SPK-7001. Choroideremia (CHM) is an X-linked inherited retinal disease (IRD) that usually manifests in affected males during childhood as night blindness and a reduction of visual field, followed by progressive constriction of visual field, ultimately leading to complete blindness.

Spark Therapeutics is investigating a potential gene therapy for LHON, a mitochondrial disease that can cause the optic nerve to atrophy, leading to sudden, severe loss of central vision. The prevalence of LHON in most populations is not clearly understood. Based on EU prevalence, it is estimated that LHON affects more than 7,000 patients in the U.S. and more than 160,000 globally.