VIsta recovered for an Italian patient of 38 years suffering from Usher type 1B syndrome After receiving, in July 2024 at the Oculistic clinic of the University of Campania “Luigi Vanvitelli”one genical therapy to “double carrier”innovative and developed byTelethon of Genetics and Medicine (Tigem) of Pozzuoli. One year after the intervention, the visual functionality has significantly improved, even in reduced brightness conditions.
The patient who recovered the Vista and Usher type 1b syndrome
Usher type 1B syndrome is caused by gene mutations Myo7awhich cause deafness to birth, Vestibular dysfunction and progressive loss of vision for retinitis pigmentosa in the first years of life. In Europe and the United States it is estimated that it affects about 20 000 people. Until now it has not been possible to treat the Pigmentosa retinite associated with this form, since the gene involved is too large for standard viral vectors.
Recover the view? It is not just seeing better: it is starting to live
«I agreed to be the first patient, not only for me, but for all those who live my same difficulties. Before gene therapy, everything was confused, indistinct. Now I can go out in the evening alone, I recognize colleagues, the shapes of the objects, I read the subtitles on TV even from afarI see the lanes of the warehouse where I work without tripping. It is not just seeing better: it is starting to live».
The procedure: double vector gene therapy
The intervention provides the injection under the retina of two distinct viral carriers, each containing half of the necessary genetic instructions. Operated in general anesthesia, The patient received the lowest dose provided by international study Light – 1promoted by Aavantgarde Bio, Tigem spin -off. Already two weeks after the intervention there was a visual improvement, while at about a month there was a significant visual capacity even in low light conditions.
Clinical results and security
Eight patients in total, treated between October 2024 and April 2025 at the same structure, received therapy in low or intermediate dose. Regarding safety and tolerability, “The preliminary data confirm the security and tolerability of gene therapy”without serious adverse events, with “Ocular inflammation observed in some patients [che] It is not very frequent, limited and is resolved with a corticosteroid therapy “. A further seven patients will be treated with a higher dose.
Italian view and innovation
“The innovative treatment … is the result of over ten years of research conducted at the Tigem thanks to the constant support of the Telethon Foundation“Alberto Auricchio, director of the Tigem and Aavantgarde Bio said. It is a technological platform capable of overcoming the capacity of capacity of current viral carriers, allowing the application of gene therapy also for large genes such as Myo7a.
The contribution of the institutions
According to Maria Rosaria Campitiello, head of the Department of the Ministry of Health, “Usher’s syndrome represents one of the most complex challenges … thanks to the virtuous collaboration between institutions, academic world, research and territory, today we proudly celebrate a concrete result”. The Ministry confirmed the commitment through the PNRR, with investments for health research also intended for the care of rare diseases.
The rector Gianfranco Nicoletti stressed that “Our ophthalmology clinic … has created this important result”the result of synergy between Vanvitelli and Tigem universities, to provide advanced care in the rare genetic eye diseases.
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