An experimental gene therapy trial has helped four toddlers born with severe childhood blindness regain significant vision.
These children had a rare genetic condition that caused their vision to deteriorate rapidly from birth. Before the treatment, they were legally blind and could only distinguish between light and dark.
After receiving the therapy, their vision improved noticeably, according to their parents. Some can now write and draw.
Gene therapy for genetic blindness has been available since 2020, but this new experimental trial takes it a step further. It works by injecting healthy copies of the faulty gene directly into the retina, or the back of the eye, to help treat a severe form of childhood blindness.
Jace, from Connecticut, received the experimental gene therapy in London when he was just two years old. Even as an infant, his parents noticed something wasn’t right with his vision.
At eight weeks old—a stage when babies typically start making eye contact and smiling—Jace wasn’t doing either. His mother immediately sensed something was wrong and began searching for answers.
That search went on for 10 months.
After visiting multiple doctors and undergoing numerous tests, they were finally told that Jace had an extremely rare condition caused by a mutation in the AIPL1 gene. There was no cure.
Jace’s father, Brendan, recalls being completely shocked.
Fortunately, while attending an eye condition conference, they learned about an experimental trial taking place in London.
The healthy copies of the gene were delivered to the back of the eye using a harmless virus, which was injected into the retina. Once inside, the genes trigger a process that helps the retinal cells function more effectively.
Just one month after the treatment, Jace squinted for the first time while looking at sunlight stream through the window—something he had never done before.
Before the surgery, he couldn’t track objects at all, even if they were held right in front of his face. Now, he can pick things up from the ground.
While Jace may need additional treatment in the future, his parents are encouraged by his progress so far.
Retinal surgeon James Bainbridge, who led the trial, emphasized the importance of early intervention, explaining that improving vision in young children could have a profound impact on their development.
The four children in the trial—who came from the U.S., Tunisia, and Turkey—were all born with a severe form of Leber Congenital Amaurosis. This rare condition is caused by a faulty gene in the retina, which normally plays a crucial role in detecting light and color.
