In a major breakthrough, a gene therapy for a rare inherited form of blindness received approval from the Food and Drug Administration on Tuesday. The treatment is the first gene therapy for an inherited disease approved in the United States—a significant landmark in the field of biomedicine.
The therapy, Luxturna, from Spark Therapeutics, treats a rare form of inherited blindness called Leber congenital aumaurosis, a condition triggered by mutations to the RPE65 gene. The treatment involves two surgical procedures, during which patients get a subretinal injection into each eye.
Luxturna works by delivering a correct copy of the RPE65 gene directly to retinal cells, restoring a person’s ability to produce the deficient enzyme that causes the condition. Like other gene therapies, the idea is to deliver a working piece of DNA into cells to correct a disease-causing gene, but Luxturna is the first such therapy to directly target mutations in one specific gene. (Experts have quibbled over whether the term “gene therapy” really applies to previous gene-based therapies approved this year by the FDA, but Luxturna is the real deal.)
“Today’s approval marks another first in the field of gene therapy—both in how the therapy works and in expanding the use of gene therapy beyond the treatment of cancer to the treatment of vision loss—and this milestone reinforces the potential of this breakthrough approach in treating a wide range of challenging diseases,” FDA Commissioner Scott Gottlieb said in a statement.
Leber congenital aumaurosis is a degenerative disease that can eventually lead to total blindness. It is one of the most common causes of blindness in children, affecting 2 to 3 out of every 100,000 newborns. Luxturna primarily aims to halt the disease’s effects, targeting children and young adults, and to restore some limited vision functionality.
While its approval is a landmark scientific achievement, its price tag is unlikely to inspire enthusiasm. The company has yet to announce a price, but Wall Street analysts suspect it may cost as much as $1 million for the one-time treatment—another first.