In the UK, an 11-year-old patient has become the first to receive an innovative gene therapy for a rare genetic disease. This treatment was developed to combat Bardet-Biedl syndrome (BBS)—a severe condition that causes the gradual death of retinal cells and leads to complete blindness at an early age.
Bardet-Biedl syndrome is caused by mutations in nearly 20 different genes and occurs in approximately 1 in 100,000 births. The innovative therapy was designed specifically for patients with mutations in the BBS10 gene, which is one of the most common forms of the syndrome. During the procedure, surgeons removed the eye’s vitreous humor and directly injected healthy copies of the gene into the retina—the light-sensitive layer at the back of the eye.
Doctors explain that the main goal of the therapy is to halt further vision loss and stabilize it, though there is also potential for improvement. Specialists note that initial responses have already shown improved vision in low-light conditions, although assessing the final, full results will take several months and years.
It is worth noting that this procedure has been performed on only a few patients worldwide. Experts estimate that, if successful, this method will provide a significant boost to the treatment of other inherited retinal diseases and open up new prospects for pediatric patients with genetic conditions.
