FDA to Decide Whether to Approve Gene Therapy for Hereditary Blindness

The FDA is about to make a decision on whether or not they will approve a new gene therapy for a hereditary blindness disease.

Luxturna would be the first approved gene therapy used in the United States for an inherited disease. The treatment includes giving a corrective gene to the patient in hopes that they will not pass down the impairment to their offspring. Developed by Philadelphia-based Spark Therapeutics, it does not promise perfect 20-20 vision or work for every patient it treats. But, in clinical trials, the company found that it significantly improved vision in almost every person they tested, and only one treatment is necessary.

Before the FDA makes their decision, children, parents, and doctors will speak to an FDA panel and recount what it is like to live with this debilitating disease. Known as Leber congenital amaurosis, those with it are unable to make a protein needed by the eye’s retina. Without this specific protein, the retina is unable to convert light into the signals in the brain that allow us to see.

Cole and Caroline Carper are just two of these patients who now can see because of Luxturna. They are set to speak to the FDA panel.

Cole, an 11-year-old who got the therapy when he was eight, explains to ABC News how his life has changed since he was able to gain his sight back. He pointed out some things people may take for granted, such as stars. Immediately after his treatment, he looked up into the night sky and asked his mother, “What are those light things?” He was seeing stars for the first time.

His 13-year-old sister Caroline, who is also diagnosed with the same hereditary blindness, was 10 when she received Luxturna. She explained how being able to finally see put everything into perspective. She said:

“I saw snow falling and rain falling. I was completely surprised. I thought of water on the ground or snow on the ground. I never thought of it falling.”

This was because the sky wasn’t something she could see.

The FDA has until January 18 to decide if it is going to approve Luxturna for use. But until then, doctors still recommend that children get tested for this disease because parents can be unsure if they are carriers or not. And since studies show that a full 79% of children have not visited an eye care provider in the past year, not getting proper vision attention can pose a significant risk.

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