Experimental Eyedrops Bring Back Boy's Eyesight
July 25, 2023
A teen born with a rare condition that causes blisters in his eyes can now see again, thanks to gene therapy eyedrops.
Antonio Vento Carvajal was born with dystrophic epidermolysis bullosa, a rare genetic condition that causes blisters all over his body and in his eyes. He's been legally blind for much of his 14 years.
But his skin improved when he joined a clinical trial to test the world's first topical gene therapy. That gave Dr. Alfonso Sabater an idea.
What if it could be adapted for Antonio's eyes?
Carvajal had multiple surgeries to remove scar tissue from his eyes, but it always grew back. His vision kept getting worse, eventually deteriorating so much that he didn't feel safe walking around.
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."
"'Yeah, I know you're going to do it'," Sabater recalled Antonio saying. "That gave me the energy to continue."
When Sabater learned about the experimental gene therapy gel for Antonio's skin, he contacted the drugmaker to see if it could be reformulated for the boy's eyes.
Suma Krishnan, co-founder and president of research and development for the Pittsburgh-based drug company, said the idea made sense and "it didn't hurt to try it."
After two years of testing, the eye drops got "compassionate use" approval from the FDA.
Sabater was still very cautious and started treating only one eye with the drops. Doctors recently measured the vision in Antoni's right eye at a near-perfect 20/25.
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."
Antonio's mom teared up thinking about what Sabater did for her son.
"He's been there through everything," she said during a visit to the University of Miami Health System's Bascom Palmer Eye Institute. "He's not only a good doctor but such a good human being and provided us with hope. He never gave up."
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