Vision restored through new gene therapy to people with hereditary blindness

Several patients who were born with a genetic disease that causes gradual loss of sight leading to blindness have regained their sight after just one treatment with a new gene therapy, during the first trial of this in human patients.

The new therapy was developed at the University of Florida. The trial was conducted by a team comprising, among others, Shannon Boy, from the University of Florida, and Paul Yang, from the Casey Eye Institute, part of the Oregon Health and Science University in the United States.

After the treatment, one of the successfully treated patients saw snowflakes for the first time. One patient realized her dream of seeing a star in the sky. Other patients were able to move around outside the house without help or read labels on supermarket products again.

People who have been given sight by the new therapy suffered from the hereditary blindness known as Leber congenital amaurosis type 1.

Those who received the highest dose of the gene therapy experienced up to a 10,000-fold improvement in their light sensitivity, were able to read more lines on an eye chart and improved their ability to visually navigate a standardized maze.

The trial also tested the safety profile of the treatment. Side effects were largely limited to minor surgical complications. The gene therapy caused mild inflammation, which was treated with steroids.

Artist’s impression of an eye. (Image: National Institute of Diabetes and Digestive and Kidney Diseases / National Institutes of Health)

The results of the trial open the door to conducting a phase 3 clinical trial as a preliminary step to the official validation of the technique for medical use.

The study is titled “Safety and Efficacy of ATSN-101 in Patients with Leber Congenital Amaurosis caused by Biallelic Mutations in GUCY2D: A Phase 1/2, Multi-Center, Open-Label, Unilateral Dose Escalation Study.” It has been published in the academic journal The Lancet. (Source: NCYT by Amazings)