Naples – From being unable to see almost anything to being able to distinguish faces, objects, and even subtitles on television again. This happened to a 38-year-old man with Usher syndrome type 1B, a rare genetic disorder that causes congenital deafness and progressive blindness.
Today, one year after the surgery, he can once again lead an independent life, go out alone in the evenings, and recognize colleagues at work. This is all thanks to an experimental gene therapy developed by the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli and administered at the Ophthalmology Clinic of the University of Campania "Luigi Vanvitelli," the only center in the world to perform the treatment.
"It's not just seeing better: it's starting to live again," the patient said during the press conference convened by the University of Naples. Before the surgery, his vision was less than a tenth; today, he can perceive shapes, faces, and movements even in low light. "I used to look at the world as if through a keyhole, now I can see the environment around me," he said.
A therapy made in Italy
The procedure was performed in July 2024. Since then, seven other Italian patients with the same condition have been treated at the Naples center between October 2024 and April 2025, confirming the therapy's safety and tolerability. Seven more will soon be treated. No serious adverse events have been recorded so far, other than mild and temporary episodes of ocular inflammation, managed with corticosteroid therapy.
The therapy is part of the international Phase I/II study called LUCE-1, sponsored by AAVantgarde Bio, a TIGEM spin-off founded in 2021. In addition to Naples, Moorfields Eye Hospital and The Retina Clinic in London are also participating. However, the Neapolitan center was the first to initiate clinical treatments in humans.
How the treatment works
"The procedure itself is not complex," explains Francesca Simonelli, director of the Ophthalmology Clinic and head of the Center for Advanced Ocular Therapies at Vanvitelli University. "The procedure is performed under general anesthesia and involves injecting two different viral vectors under the retina, each containing half of the genetic information needed to reconstruct the missing protein in patients."
After just a few weeks, the first patient treated began to notice an improvement in his vision. A year later, the results are remarkable: the man is no longer considered visually impaired.
A breakthrough for gene therapy
"This achievement," comments Alberto Auricchio, director of TIGEM and scientific director of AAVantgarde Bio, "is the fruit of over ten years of research supported by the Telethon Foundation. Our approach overcomes one of the main limitations of gene therapy: the limited capacity of the viral vectors used to deliver the corrected genes into cells."
For many inherited eye diseases, such as Usher syndrome, the defective gene is too large to be transferred using traditional methods. "With our platform," Auricchio continues, "two separate vectors, once inside the cell, reassemble the gene and allow the production of a functioning protein. This approach could also pave the way for the treatment of other eye diseases that have so far been excluded from the benefits of gene therapy."
With this first global clinical trial, the gene therapy developed in Naples is poised to become a new standard for the treatment of complex hereditary eye diseases, which until recently seemed incurable. For the 38-year-old patient, science has already performed a miracle: he has restored his sight, but above all, his freedom to live.
The article discusses an innovative treatment for Usher syndrome. It's exciting to see how gene therapy is changing people's lives. I hope other patients can benefit from this new treatment and regain their independence.