The U.S. Food and Drug Administration (FDA) has approved the first gene therapy targeting an inherited retinal disease (IRD), a major breakthrough that could restore vision for individuals affected by genetic eye disorders. The decision marks a pioneering step in both ophthalmology and the broader field of gene therapy.
The therapy, known as Luxturna (voretigene neparvovec-rzyl), is designed to treat biallelic RPE65 mutation-associated retinal dystrophy, a rare condition that can lead to complete blindness. Manufactured by Spark Therapeutics, Luxturna delivers a functional copy of the RPE65 gene directly to retinal cells via a one-time injection. Patients with this mutation suffer from progressive vision loss due to a deficiency in the RPE65 protein necessary for the normal visual cycle.
The FDA’s approval follows the successful completion of a clinical trial involving 41 patients. Results showed that a significant number of those treated experienced improved light sensitivity and greater ability to navigate obstacles in low-light conditions — key indicators of vision improvement. The treatment is suitable for patients with viable retinal cells, typically children and young adults, allowing intervention before advanced degeneration occurs.
Peter Marks, M.D., Ph.D., director of the FDA’s Center for Biologics Evaluation and Research, stated, “Gene therapy holds out the promise for treating rare, inherited conditions for which few or no treatments exist. Today’s approval marks another first in the field of gene therapy…”
The approval also signals growing regulatory support for gene-based therapies, encouraging investment and innovation in treatments for a broad array of genetic disorders. Since its rare-disease focus affects fewer than 2,000 individuals in the United States, Luxturna has received both Orphan Drug and Breakthrough Therapy designations prior to approval.
Pricing remains a concern, as Luxturna has been labeled one of the most expensive treatments on the market, with an expected cost of approximately $850,000 for both eyes. However, Spark Therapeutics has indicated plans to work closely with insurers and adopt novel payment models that align cost with therapeutic outcomes.
More broadly, the approval of Luxturna could pave the way for future gene therapies in ophthalmology and other fields, such as hemophilia, muscular dystrophies, and inherited metabolic disorders, shaping the next generation of precision medicine.
Patients and advocacy groups have welcomed the decision, seeing it as not only a medical milestone but also a beacon of hope for those living with genetic blindness. The FDA’s move underscores a broader evolution in healthcare that shifts from managing symptoms to addressing root causes through advanced biotechnological solutions.
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