Luxturna

Luxturna, the brand name for voretigene neparvovec-rzyl, is a gene therapy developed by Spark Therapeutics for the treatment of inherited retinal dystrophy caused by biallelic mutations in the RPE65 gene, most notably Leber congenital amaurosis type 2 (LCA2). It uses an adeno-associated virus vector (AAV2) to deliver a functional copy of the RPE65 gene to retinal pigment epithelium cells, enabling the visual cycle and improving retinal function.

The therapy is given as a one-time treatment in both eyes through subretinal injections performed in a surgical setting, typically with injections in each eye separated by several weeks. The objective is to provide lasting expression of functional RPE65 and potential improvements in vision.

Clinical trials showed improvements in functional vision, as measured by the multi-luminance mobility test (MLMT), indicating increased mobility under low-light conditions. Improvements in standard visual acuity were variable. Outcomes can depend on the extent of residual retinal structure at treatment.

Safety considerations include procedure-related risks and ocular adverse events, such as intraocular inflammation, cataract formation in phakic eyes, elevated intraocular pressure, and rare retinal tears or detachment. Most events are manageable with standard ophthalmic care.

Regulatory status: Luxturna received FDA approval in 2017 for patients with biallelic RPE65 mutation-associated retinal dystrophy and has been approved in the European Union and other jurisdictions. The therapy is among the most expensive approved medicines, with reported prices around $850,000 for treatment of both eyes.