"I volunteered to be the first patient, not only for myself, but for everyone going through the same problems. Before gene therapy, everything was unclear and ambiguous. Now I can go out alone at night, identify coworkers and the outlines of objects, read subtitles on TV from a distance, and walk the warehouse without tripping. It's not only seeing better; it's starting to live". This is the reaction of the world's first patient treated with a novel gene therapy for a rare hereditary retinal illness that causes deafness and progressive blindness. A year after undergoing surgery at the Ophthalmology Clinic of the University of Campania "Luigi Vanvitelli" last July, the 38-year-old Italian has emerged from the darkness and is no longer visually impaired. His vision was less than a tenth of a degree, and he no longer perceives the world as if through a keyhole; rather, he can see the contours of his visual field. This remarkable outcome was achieved thanks to a new gene therapy method developed by the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli, which was also employed on seven other Italian patients treated at the Neapolitan hospital between October 2024 and April 2025. Preliminary data from these seven cases confirm the safety and tolerability of the approach. Seven additional patients are scheduled to undergo surgery in the near future. The first patient was treated with the lowest dose possible in the international Phase I/II LUCE-1 study, which was funded by AAVantgarde Bio, a biotechnology company created in 2021 as a spin-off of the Telethon Foundation Institute. The study additionally involves Luigi Vanvitelli University of Campania, Moorsfield Eye Hospital, and The Retina Clinic in London. The Neapolitan clinic is presently the only one in the world to have begun treatment, and it is also treating seven other individuals with Usher syndrome type 1B, half of whom received the lowest dose of gene therapy and the other half an intermediate level. Seven more individuals will be added to the trial, and a third, higher dose will be tested.
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