On 6 July, US doctors and scientists achieved an incredible feat. Thanks to a revolutionary new treatment in gel form, the world's first gene therapy has restored sight to a young teenager. An effective clinical trial, to say the least!
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The teenager suffered from a genetic disease
Antonio Vento Carjaval, a 14-year-old boy from the US, has been blind for most of his life. The cause? Dystrophic Epidermolysis Bullosa. This genetic disease causes blisters all over the body, and even in the eyes.
The idea of applying this treatment originated with Dr. Alfonso Sabater, according to the AP News news agency, which relayed the clinical case. He reached out to Krystal Biotech, the drug's manufacturer. As luck would have it, the drug could be applied to his patient's eyes.
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Antonio had scars on his eyes
Indeed, it was the doctor's intuition that the scars on the cornea caused by epidermolysis were preventing Antonio from seeing properly. Suma Krishnan, co-founder and president of research and development at the Pittsburgh-based company, said 'it wouldn't hurt to try'.
The results were conclusive, to say the least. Indeed, following surgery on his right eye in August 2022, he received the eye drops in his eye via syringe. The manufacturers slightly modified the formula by removing the gel from the product, making it more aqueous.
Antonio's mother, Yunielkys Carvajal, had tears in her eyes when she thought of what this doctor had done for her son. 'He's done everything for us,' she testifies in Spanish during a visit to the University of Miami Ophthalmological Institute.
A doctor in Miami wanted to help his 14-year-old patient see again. New gene-therapy eyedrops did just that — and could benefit millions more. https://t.co/NNlhN1uVSs
— The Associated Press (@AP) July 24, 2023
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The joy of the family
Antonio's mother praised her son's doctor to AP News.
He's not just a good doctor, he's also an incredible human being, he gave us hope and he never gave up.
After the young teenager had regained near-perfect 20/25 vision, the doctor turned his attention to his left eye. This one, which was even more damaged, is now functional. His vision is 'quite good', he says, at around 20/50.
And what has Antonio done now that he's regained his sight? He says he's been playing video games with his friends, an activity that was impossible for him even a year ago.
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This article has been translated from Gentside FR.
Sources used:
AP News: Gene therapy eyedrops restored a boy’s sight. Similar treatments could help millions
