The era of gene therapy in ophthalmology has begun. A treatment for patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy is now available and there are many ongoing studies of gene therapies for inherited and other retinal degenerative diseases.
This article was reviewed by Guyléne Le Meur, MD
In December 2017, voretigene neparvovecrzyl (Luxturna, Spark Therapeutics) became the first gene therapy with a recombinant adeno-associated virus vector for an ophthalmic disease.
The story of its relatively short journey from preclinical development to regulatory approval gives hope for the future of gene therapy in ophthalmology, said Guylène Le Meur, MD.
“Currently, many other clinical trials are investigating gene therapy for various inherited retinal degenerations. There are almost 200 patients enrolled in these studies and approximately another 600 patients in studies of gene therapy for other retinal degenerative diseases,” said Dr. Le Meur, Department of Ophthalmology, Centre Hospitalier Universitaire de Nantes, Nantes, France.
“We can also expect to be seeing gene therapy arrive in the future for inherited corneal dystrophies,” Dr. Le Meur added. Voretigene, which is given as a subretinal injection, is also the first pharmacologic therapy approved by the FDA for an inherited retinal dystrophy.
Specifically, it is indicated for the treatment of adult and pediatric patients with vision loss caused by confirmed biallelic RPE65 mutations who have sufficient viable retina cells.
“The treatment is given in both eyes, with the second eye injected at least six days after the first, and immunosuppressive therapy with prednisone should be started prior to the injection and continued after,” Dr. Le Meur said.