voretigene neparvovec

Voretigene neparvovec, marketed under the brand name Luxturna, is a gene therapy developed by Spark Therapeutics and distributed worldwide by Novartis Pharmaceuticals. It is an adeno-associated virus type 2 (AAV2) vector-based biologic that delivers a functional copy of the human RPE65 gene. The drug targets the RPE65 gene, which encodes the enzyme all-trans retinyl isomerase necessary for the visual cycle in retinal cells. Luxturna is indicated for the treatment of patients with inherited retinal dystrophy caused by confirmed biallelic (mutations in both copies) RPE65 mutations, including conditions such as Leber congenital amaurosis and retinitis pigmentosa. It was the first FDA-approved gene therapy for a genetic disease in the United States (December 2017) and is administered as a one-time subretinal injection into each eye. The therapy works by enabling retinal cells to produce the missing RPE65 enzyme, helping to restore the visual cycle and improve functional vision in patients who have sufficient viable retinal cells remaining.

Brand names

Luxturna

Other names

voretigene neparvovec-rzyl