Antonio, who's been legally blind for much of his 14 years, can see again.
The teen was born with dystrophic epidermolysis bullosa, a rare genetic condition that causes blisters all over his body and in his eyes. But his skin improved when he joined a clinical trial to test the world’s first topical gene therapy. That gave Sabater an idea: What if it could be adapted for Antonio's eyes?
Sabater had no answers then, and tried to reassure the boy: "I'll find a solution. I just need some time. I’m working on it.” Suma Krishnan, co-founder and president of research and development for the Pittsburgh-based company, said the idea made sense and “it didn’t hurt to try it." This year, Sabater began treating Antonio's left eye, which had even more scar tissue. That one is also steadily improving, measuring close to 20/50, which Sabater said “is pretty good vision.”
Sabater, director of the Corneal Innovation Lab at the eye institute, said gene therapy eyedrops could potentially be used for other diseases by changing the gene delivered by the virus. For example, a different gene could be used to treat Fuchs’ dystrophy, which affects 18 million people in the U.S. and accounts for about half the nation's corneal transplants.
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