This is a game-changer.
Researchers have developed a promising gene therapy that could restore vision in children and adults suffering from Leber congenital amaurosis (LCA), a rare inherited disorder caused by mutations in the GUCY2D gene. This condition typically leads to early childhood vision loss, with around 100,000 people affected worldwide. The new treatment, tested by a team at the University of Pennsylvania, was administered through injections under the retina and resulted in significant improvements in vision for those with LCA1, a specific form of the disorder.
In a small phase 2 trial, 15 patients, including 12 adults and three children, participated, all with severely impaired vision that glasses could not correct. The gene therapy, called ATSN-101 and developed by Atsena Therapeutics, was tested at various dosage levels. Patients experienced quick improvements, with some showing up to a 10,000-fold enhancement in their ability to see, particularly in low-light conditions. These improvements have persisted for over a year.
Patients’ progress was measured using several tests, including their ability to navigate dimly lit environments and eye chart readings. The treatment was particularly effective for two individuals who gained the ability to see outdoors at night for the first time. While side effects, such as minor eye hemorrhages and inflammation, occurred, they were managed successfully with treatments like steroids.
The researchers plan to conduct larger, randomized trials to further assess the therapy’s safety and effectiveness, a step necessary for U.S. Food and Drug Administration approval. This new therapy follows the team’s earlier success with gene therapy for a different form of Leber congenital amaurosis and offers hope for treating other inherited retinal diseases that cause early blindness.
The team aims to refine the treatment and expand its application to other genetic mutations that cause congenital retinal blindness. With continued research, this gene therapy could provide a breakthrough for many individuals affected by vision loss due to inherited retinal conditions.
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