Luxturna Approved to Treat Inherited Form of Vision Loss

Luxturna is the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene.

Luxturna (voretigene neparvovec-rzyl; Spark Therapeutics) has been approved by the Food and Drug Administration (FDA) for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy, a rare inherited disorder that can lead to vision loss and blindness in some patients.

Luxturna, a novel gene therapy, is the first directly administered gene therapy that targets a condition caused by a specific gene mutation. Its safety and efficacy were established in a program involving 41 patients aged 4 to 44 years with confirmed biallelic RPE65 mutations. A Phase 3 study (N=31) demonstrated that treatment with Luxturna resulted in significant improvements in the ability of patients to complete an obstacle course at low lights versus the control group. A post-marketing observational study will be conducted to further evaluate long-term safety. 

Related Articles

Mutations in the RPE65 gene can block the visual cycle and cause impaired vision. Patients with biallelic RPE65 mutation-associated retinal dystrophy experience progressive deterioration of vision over time, which can eventually result in complete blindness. Luxturna provides a normal copy of the RPE65 gene directly to retinal cells, which then produce the normal protein that converts light to an electrical signal in the retina to restore vision loss. A naturally occurring adeno-associated virus that has been modified with recombinant DNA techniques acts as a vehicle to deliver these normal human RPE65 gene to the retinal cells. 

Luxturna is administered as a subretinal injection and should only be given to children and adult patients with viable retinal cells.

For more information call (855) 772-7589 or visit