The American authorities approved the use of the drug for gene therapy of hereditary visual impairment in children.
The Food and Drug Administration (FDA) has approved a gene therapy for a hereditary disease for the first time. Now the drug Luxturna is approved for use, restoring vision to people with a special form of retinal degeneration (retinal dystrophy). This is reported on the official website of the FDA.
Some pediatric retinal dystrophies are caused by mutations in both copies of the RPE65 gene (any cell in the body, except the reproductive cells, carries two copies of the same gene). This gene encodes a protein that helps restore light-sensitive pigment molecules in retinal cells. These pigments are destroyed by light. This is partly why visual acuity is temporarily reduced if you stare at brightly lit objects for a long time. Thus, the protein encoded by defective copies of RPE65 is unable to provide normal pigment regeneration. In the first years of life, this is compensated by a number of biochemical mechanisms, but still vision is gradually deteriorating. Some patients with retinal dystrophies can completely lose it already in adolescence.
Representatives of Spark Therapeutics have presented a remedy that can help with these diseases. Their development, called Luxturna, is a virus that carries in its DNA copies of the normal RPE65 genes. Once in the retinal cells (the drug will be injected directly into the eyes), they replace their defective RPE65 with healthy ones. Studies on animals have shown that Luxturna is safe to use: the virus does not infect experimental subjects, and it has no pronounced side effects. And in clinical trials involving 29 patients aged 4 to 44 years, almost all of them improved their vision thanks to the drug. The effect was expressed to varying degrees. Some officially blind have regained their minimum vision.
The FDA has previously approved two more gene therapies, Kymriah (for leukemia) and Yescarta (for lymphoma). Luxturna is the third approved drug of its kind and the first to treat a hereditary rather than acquired ailment. However, the unprecedented drug has one significant drawback: price. Spark Therapeutics have yet to say how much a dose of their drug will cost, but based on the Kymriah data, it will cost at least a few hundred thousand dollars. However, the manufacturing company promises to help patients with the purchase of funds.
SVETLANA YASTREBOVA