World-First Gene Therapy Restores Vision in Patient with Usher Syndrome Type 1B
核心洞察
A 38-year-old Italian man with Usher syndrome type 1b (搜索) became the first patient worldwide to regain sight through an experimental dual-vector gene therapy targeting the MYO7A (搜索) gene.
The innovative treatment splits the large MYO7A (搜索) gene across two viral vectors, allowing retinal cells to reassemble and produce the missing protein essential for vision.
Eight patients have undergone the procedure with no serious adverse events, showing rapid improvement within two weeks and sustained vision restoration after one year.
A groundbreaking gene therapy has successfully restored vision in a 38-year-old Italian man with Usher syndrome type 1b (搜索), marking the first clinical demonstration of an innovative dual-vector approach to treating this previously incurable genetic eye disorder (搜索). The patient, who underwent surgery in July 2024 at the University of Campania "Luigi Vanvitelli," has experienced dramatic improvements in both near and distant vision, even in low-light conditions.
"Before, everything was blurry, indistinct. Now I can go out at night alone, recognise colleagues, read subtitles on TV from afar, see the aisles of the warehouse where I work without stumbling," the patient reported. "It's not just seeing better, it's starting to live."
Novel Dual-Vector Approach Overcomes Technical Barriers
Usher syndrome type 1b (搜索) is caused by mutations in the MYO7A (搜索) gene, which provides instructions for producing a protein critical to both inner ear function and retinal light processing. Patients typically experience profound deafness from birth and progressive vision loss beginning in adolescence or young adulthood, ultimately leading to blindness.
The challenge in developing gene therapy for this condition lies in the size of the MYO7A (搜索) gene, which is too large to be carried by conventional single viral vectors used in existing therapies. Researchers at the Telethon Institute of Genetics and Medicine (搜索) (TIGEM) in Pozzuoli, Italy, solved this problem by splitting the gene across two separate viral vectors.
The surgical procedure involves injecting both vectors under the retina, where retinal cells can reassemble the two halves to produce a fully functional MYO7A (搜索) protein. "The operation takes place under general anaesthesia, but recovery is rapid," explained Professor Francesca Simonelli, director of Vanvitelli University's ophthalmology clinic and head of the Center for Advanced Ocular Therapies.
Rapid and Sustained Clinical Improvements
The first patient showed remarkable progress within weeks of the procedure. "Already after a few days, an improvement is noticeable. At two weeks, the first patient could see better and at one month he was able to find his way even in the dark," Simonelli noted. "Today, one year later, his sight has been restored."
The patient's visual capacity improved from less than a tenth before treatment—described as seeing "the world as if he was looking at it through a keyhole"—to functional vision that allows independent navigation and detailed visual tasks.
Expanding Clinical Trial Shows Promise
Seven additional patients underwent the procedure between October 2024 and April 2025, with none experiencing serious side effects. The mild adverse events that did occur were infrequent and easily managed, demonstrating the treatment's safety profile.
"In the first patient treated, improvements were evident just two weeks after the procedure and continued over time," Simonelli reported. These improvements encompassed both near and distant vision capabilities, including enhanced performance in low-light conditions.
The trial is set to continue with a second experimental phase involving seven more patients who will receive a higher dose of the treatment. The preliminary results offer encouraging evidence for the therapy's potential to address not only Usher syndrome type 1b (搜索) but potentially other inherited retinal diseases (搜索).
"This is still an ongoing trial, but the signals observed so far offer new hope for other inherited eye diseases that currently have no treatment options," Simonelli concluded. If successful, the therapy could become a new treatment option for patients suffering from various genetic eye disorders that were previously considered untreatable.