Luxturna (voretigene neparvovec-rzyl)

The first FDA-approved treatment for biallelic RPE65 retinal dystrophy, which the FDA's review describes as most often diagnosed as Leber congenital amaurosis type 2 or retinitis pigmentosa type 20. As of September 2026, it is the only product on the FDA's list of approved cell and gene therapies for either condition.

The RPE65 enzyme, made in the retinal pigment epithelium at the back of the eye, performs a key step in the visual cycle, which recycles the light-sensing chemical that rods and cones need to see. When both copies of the RPE65 gene are faulty, the cycle stalls, causing night blindness and vision loss that worsens over time. Luxturna is a modified adeno-associated virus that cannot replicate and carries a normal human RPE65 gene. Injected into the space under the retina, it delivers the gene to some retinal pigment epithelium cells, which can then make RPE65 and restart the visual cycle. It can only work in retinal cells that are still alive, and it is not recommended before 12 months of age because retinal cells are still dividing and the gene could be diluted or lost.

Luxturna has no boxed warning and no contraindications. Side effects were counted in 41 treated patients (81 eyes) in 2 studies and may come from the drug, the eye surgery, the steroid pills or a mix of these. Of these patients, 66% had an eye-related side effect. The most common were eye redness (22%), cataract, a clouding of the lens (20%), raised eye pressure (15%), retinal tear (10%), dellen, a thinning of the clear front of the eye (7%), macular hole (7%), deposits under the retina (7%), and eye inflammation, eye irritation, eye pain and wrinkling on the surface of the macula (5% each)^[1]. The label warns about endophthalmitis, a serious infection inside the eye (1 patient), permanent loss of sharpness of vision, retinal problems including holes, thinning of the center of the retina, tears and detachment, raised eye pressure, and cataract. Chorioretinal atrophy, a loss of retinal cells and the blood vessel layer beneath them, has been reported since approval and was added to the label in 2022^[1][4]. The surgery leaves an air bubble in the eye, and flying, traveling to high elevations or scuba diving before it is gone, which can take a week or more, can cause permanent vision loss^[1].

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For people with inherited retinal disease caused by confirmed mutations in both copies of the RPE65 gene, which only genetic testing can show, who still have enough living retinal cells as judged by their doctor. It is not recommended under 12 months of age. Study patients were 4 to 44 years old, and it has not been studied in people 65 or older. Many people diagnosed with Leber congenital amaurosis or retinitis pigmentosa have mutations in other genes and are not eligible.

Source: Spark Therapeutics Generation Patient Services

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The phase 3 study (AAV2-hRPE65v2-301, NCT00999609) randomized 31 people aged 4 to 44 with confirmed RPE65 mutations: 21 to Luxturna and 10 to a control group that went untreated for 1 year and was then offered treatment. The main measure was the multi-luminance mobility test (MLMT), which checks whether a person can walk an obstacle course accurately and at a reasonable pace at 7 light levels, from a brightly lit office (400 lux) to a moonless summer night (1 lux). After 1 year, the median score improved by 2 light levels with Luxturna against 0 in the control group, and 11 of 21 treated patients (52%) improved by 2 or more levels against 1 of 10 controls (10%). Light sensitivity also improved, while sharpness of vision (visual acuity) did not differ significantly between groups. The benefit appeared by day 30 and held through 2 years, and control patients responded similarly after crossing over^[1][11]. A phase 1 study of 12 patients (NCT00516477) and its follow-on study (NCT01208389) also supported approval^[2][12].

Luxturna, called AAV2-hRPE65v2 in its studies, entered human testing under an investigational application first submitted on June 14, 2007, and Spark Therapeutics brought it to approval. It received Breakthrough Therapy designation on September 24, 2014 and Orphan Drug designation on November 29, 2016, and its application was filed for priority review on July 14, 2017^[3]. On October 12, 2017, an FDA advisory committee voted 16 to 0 that it had an overall favorable benefit-risk profile, and the FDA approved it on December 19, 2017 with a rare pediatric disease priority review voucher^[3][2]. On January 3, 2018, Spark set the price at $850,000 for both eyes, or $425,000 per eye^[8]. Roche completed its purchase of Spark on December 17, 2019^[9], and Luxturna is now distributed in the US by Genentech, a member of the Roche Group^[5]. On June 8, 2022, the FDA approved a label update adding chorioretinal atrophy reported after approval^[4].