Researchers at the University of Pennsylvania have just taken a significant step toward a possible treatment for Leber congenital amaurosis. This rare genetic disease of the retina causes severe vision loss starting in childhood.
The results of a study, published in the scientific medical journal The Lancet, offer new hope for people suffering from this disease. Thanks to gene therapy, researchers at the University of Pennsylvania managed to partially restore vision in a group of patients.
How does this new therapy work?
Leber congenital amaurosis is caused by mutations in the GUCY2D gene, essential for the production of proteins involved in converting light into electrical signals in the retina. These mutations lead to progressive degeneration of photoreceptors, cells of the retina sensitive to light, leading to irreversible vision loss.
The gene therapy developed by researchers at the University of Pennsylvania aims to correct the genetic mutation causing the disease. By injecting a viral vector containing a healthy copy of the GUCY2D gene directly into the retina, scientists were able to restore production of the deficient protein.
Of the 15 patients in the trial:
- 2 of 9 who received the maximum dose regained 10,000 times better vision
- 3 of 6 patients who received a high dose obtained the best possible score on a mobility course
Although additional research and further testing phases are needed to assess the long-term effectiveness of this therapy, these results represent a major advance and hope for people with inherited eye diseases.
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