The U.S. Food and Drug Administration (FDA) announced on Tuesday that it has approved the first gene therapy for an inherited disease that is caused by mutations in a specific gene.
The FDA said in a statement it approved Spark Therapeutics' Luxturna to treat children and adult patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy that leads to vision loss and may cause complete blindness in certain patients.
"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," FDA Commissioner Scott Gottlieb said.
"And this milestone reinforces the potential of this breakthrough approach in treating a wide-range of challenging diseases," he said.
Luxturna works by delivering a normal copy of the RPE65 gene directly to retinal cells, leading these cells to produce the normal protein that converts light to an electrical signal in the retina to restore patient's vision loss, the FDA said.
Currently, biallelic RPE65 mutation-associated retinal dystrophy affects approximately 1,000 to 2,000 patients in the United States.
"Patients with biallelic RPE65 mutation-associated retinal dystrophy now have a chance for improved vision, where little hope previously existed," Peter Marks, director of the FDA's Center for Biologics Evaluation and Research, said.
The U.S. regulator noted that Luxturna should be given only to patients who have viable retinal cells as determined by doctors and that treatment must be done separately in each eye on separate days, with at least six days between surgical procedures.
The approval came after a clinical trial involving 41 participants with confirmed biallelic RPE65 mutations found those receiving Luxturna demonstrated significant improvements in their ability to complete the obstacle course at low light levels as compared to the control group.
Earlier this year, the FDA approved two other gene therapies that re-engineer people's own immune cells to treat blood cancers, rather than genetic diseases.
"The culmination of decades of research has resulted in three gene therapy approvals this year for patients with serious and rare diseases," Gottlieb added. "I believe gene therapy will become a mainstay in treating, and maybe curing, many of our most devastating and intractable illnesses."