A historic breakthrough in ophthalmology based on a novel gene therapy promises to revolutionize the treatment of hereditary blindness. Researchers at the University of Pennsylvania in the United States have obtained surprising results in a clinical study with patients with Leber congenital amaurosis (LCA1), a rare genetic disease that causes severe vision loss from childhood.
According to the study published in The Lancet, through gene therapy, scientists were able to restore, in some cases, up to 10,000 times the visual capacity of patients (those who received the highest dose of therapy). All in a safe and effective manner, with few side effects.
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The gene therapy, developed from a microorganism (AAV5), was injected directly into the retina of 15 patients, three of whom were children. All of them had mutations in the GUCY2D gene, which is essential for the production of proteins critical for vision. Before the treatment, these patients had very limited vision, comparable to only being able to see an object 6 meters away when a person with normal vision would see it clearly from about 25 meters away.
New approaches to promising therapy
The improvement after gene therapy was noticeable within the first month after application, and the new vision remained stable for at least 12 months. In one of the most significant cases, a patient reported being able to orient himself at night using the light of a campfire, something unthinkable before the treatment.
The safety of the therapy was also assessed, with minimal side effects. Minor eye hemorrhages and inflammation, all of which resolved with treatment, were the most common problems.
The study was led by researchers Artur Cideciyan and Tomas Aleman, who highlighted the great potential of gene therapy to reverse blindness caused by inherited degenerations. Based on this advance, scientists are now seeking to refine the treatment and apply it to other forms of congenital blindness, paving the way for clinical approval of the therapy.
