6-Year-Old Boy Who Was Born Blind Gets Vision Partially Restored After ‘Life-Changing’ Gene Therapy

Jace, a 6-year-old boy from Connecticut, is one of four children who have experienced "life-changing" improvements in their vision after participating in an experimental gene therapy trial aimed at treating severe childhood blindness.

At just two months old, Jace‍‍`s parents, DJ and Brendan, noticed that he wasn‍‍`t making eye contact or smiling, which are common milestones for babies. DJ felt something was wrong with his vision and began researching and consulting multiple doctors. After several tests, Jace was diagnosed with Leber Congenital Amaurosis (LCA), a rare genetic disorder that leads to blindness or severe vision impairment. This condition is caused by a mutation in the AIPL1 gene, and until now, there has been no established treatment.

"The diagnosis was a shock," said Brendan. "You never think it will happen to you, but finding out gave us a way forward."

After the diagnosis, the family connected with Michel Michaelides, a consultant eye surgeon at Moorfields Eye Hospital in London. This meeting led to Jace being selected for a pioneering gene therapy trial that could potentially restore his vision.

The gene therapy involves injecting healthy copies of the defective gene into the retina, ideally performed early in life for the best results. Jace‍‍`s surgery was conducted on one eye when he was just 2 years old, and within a month, his vision showed dramatic improvements.

Jace‍‍`s mother, DJ, recalls that after the surgery, her son started spinning, dancing, and responding to things like the TV and phone. Within six months, Jace could recognize and name his favorite cars from several meters away. "The results have been nothing short of spectacular," said Brendan. The improvements have also made bedtime easier for Jace, as he now falls asleep more easily—a common challenge for children with vision loss.

The remarkable results of the gene therapy were published in The Lancet medical journal, showcasing significant improvements in vision for all four children involved in the trial. While it’s unclear if Jace will need further treatment, his parents feel incredibly fortunate to have had access to this groundbreaking therapy.

Scientists are now exploring ways to make this treatment more widely available, as it marks a potential breakthrough in the fight against the most severe forms of childhood blindness. "This could be the first effective treatment for the most severe form of childhood blindness," said Michaelides, "a potential game-changer in early intervention."