Medical Minute: Breakthrough treatment helps children with genetic disorder regain vision

A revolutionary gene therapy treatment in London has improved the vision of children suffering from a rare genetic disorder, offering hope to families worldwide.

Among the first to benefit from the treatment is Jace, a now 6-year-old boy who was born with Leber Congenital Amaurosis 4 (LCA4), a condition that left him only able to distinguish between light and dark and was slowly causing him to go blind.

Jace's parents first noticed something was wrong when he was just a baby. As he grew older, his limited vision became more apparent, and they sought out potential treatments.

In 2020, at the age of 2, Jace's family made the life-changing decision to fly to London, where he participated in the world’s first clinical trial for a groundbreaking gene therapy treatment designed to save the vision of children like him.

Jace was one of four children from around the world selected for the trial. After undergoing the procedure, his reaction was nothing short of remarkable.

“He came out of surgery, and within the first couple of minutes, he was able to get out of bed, spinning, dancing around, and making all of the nurses laugh,” DJ, Jace's mother, said.

The treatment involves injecting healthy copies of a defective gene, AIPL1, into the retina of the eye, using a harmless virus to deliver the gene into retinal cells. Once inside, the virus triggers the cells to begin healthy growth, offering hope for the restoration of vision.

Now, at age 2, Jayce has been monitored for five years as part of the trial. He has undergone various tests, including tasks like locating objects smaller than a quarter of an inch and navigating hallways. The results have been life-changing. Jayce is now seeing the world in ways his family never imagined possible, with his vision improving to levels beyond what they thought he could achieve.

This groundbreaking treatment marks a major step forward in the fight against LCA4, offering new possibilities for children affected by this genetic disorder. For families like Jayce’s, it represents a future where children with previously untreatable conditions can experience the world in a way they never thought possible.