FDA OKs Gene Therapy for Rare Mutation-Associated Vision Loss

DECEMBER 19, 2017
Jennifer Barrett, Assistant Editor
Officials with the FDA have approved voretigene neparvovec-rzyl (Luxturna, Spark Therapeutics), the first novel gene therapy for the treatment of an inherited form of vision loss in children and adults, according to an FDA press release.

With this approval, voretigene neparvovec-rzyl is the first US-approved directly administered gene therapy that targets a disease caused by mutations in a specific gene.

According to the press release, voretigene neparvovec-rzyl works by delivering a normal copy of the RPE65 gene directly to retinal cells. The retinal cells then produce the normal protein that converts light to an electrical signal in the retina to restore patient’s vision loss. To do this, voretigene neparvovec-rzyl uses a naturally occurring adeno-associated virus modified with recombinant DNA techniques to deliver the normal human RPE65 gene to the retinal cells.

The approval is based on data from a clinical trial that included 41 patients between the ages of 4 and 44 years old with confirmed biallelic RPE65 mutations. In a phase 3 study with 31 patients, patients treated with voretigene neparvovec-rzyl demonstrated significant improvements in their ability to complete an obstacle course at low light levels, compared with patients in the control group.

Voretigene neparvovec-rzyl should be administered separately in each eye on separate days, with at least 6 days between surgical procedures, via subretinal injection by a surgeon experienced in performing intraocular surgery. In addition, patients should receive a short course of oral prednisone to limit the potential immune reaction to voretigene neparvovec-rzyl.

Common adverse reactions associated with voretigene neparvovec-rzyl include eye redness, cataract, increased intraocular pressure, and retinal tear.

“The culmination of decades of research has resulted in 3 gene therapy approvals this year for patients serious and rare diseases,” FDA Commissioner Scott Gottlieb, MD, said in the press release. “I believe gene therapy will become a mainstay in treating, and maybe curing, many of our most devastating and intractable illnesses.”


FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss [news release]. FDA’s website. . Accessed December 19, 2017.