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FDA Approves Gene Therapy for Rare Form of Blindness


In December 2017, the U.S. Food and Drug Administration approved LUXTURNA™, the first and only gene therapy drug for the treatment of a rare condition that can cause blindness.  Dr. Ernest Kornmehl of Boston area Kornmehl Laser Eye Associates explains what this exciting news means.

Gene Therapy for Retinal Disorder

Luxturna was developed for people that have a genetic retinal disease called Leber congenital amaurosis. It helps those whose disease is caused by mutations in both of the RPE65 genes (believed to be about 1,000 to 2,000 adults in the U.S.). When the RPE65 gene develops a mutation, there is a reduction or absence of the RPE65 protein; this blocks the normal visual cycle and causes progressive vision loss. The vision loss begins in infancy and often progresses to complete blindness.

Up until now, the disease has been untreatable.

Injections of Luxturna deliver a healthy, functioning copy of the RPE65 gene to the retinal cells to replace the mutated gene. These cells detect light and convert it to electrical signals to send to the brain. Although Luxturna patients do not recover normal vision, they are able to see shapes and light, and get around without a cane or guide dog. In studies, the visual improvements have been shown to last up to three years.

The first step toward treatment is genetic testing to confirm mutations in both copies of the RPE65 gene. The drug’s manufacturer, Spark® Therapeutics, has said it will provide access to genetic testing to select candidates. Once the diagnosis is confirmed and the patient’s personal eye doctor recommends treatment with Luxturna, the Spark team will connect patients with an approved Ocular Gene Therapy Treatment Center.

Luxturna is not only the first gene therapy drug to be approved by the FDA to treat Leber congenital amaurosis, but also the first FDA-approved gene therapy to treat any genetic disease.

“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,” said FDA Commissioner Scott Gottlieb, M.D.

Contact Kornmehl Laser Eye Associates

If your vision is deteriorating and you do not know why, Dr. Kornmehl can help identify the source of the problem. Please call 877-870-2010 or email Kornmehl Laser Eye Associates to request a consultation today.