Experimental Gene Therapy Restores Sight in Blind Toddlers, Marking a Major Breakthrough in Childhood Vision Treatment
An experimental gene therapy trial has given four toddlers born with a severe form of childhood blindness the ability to see, marking a groundbreaking development in medical science. The trial, conducted at Moorfields Eye Hospital in London, has delivered “life-changing improvements” to their vision, doctors confirm.
These children were born with a rare genetic condition that caused their eyesight to deteriorate rapidly from birth. Before treatment, they were legally blind and could only distinguish between light and dark. However, after receiving the gene therapy, parents reported remarkable improvements—some children can now begin drawing and writing.
A Groundbreaking Approach to Vision Restoration
The study, published in The Lancet medical journal, builds on previous gene therapy advancements. Since 2020, a gene therapy for another form of genetic blindness has been available on the NHS. This new procedure involves injecting healthy copies of a defective gene into the back of a child’s eye at an early stage to halt the progression of the condition.
One of the beneficiaries, Jace, from Connecticut, USA, underwent the treatment in London at just two years old. His parents noticed early signs of vision impairment and spent nearly a year searching for answers before discovering that Jace had an ultra-rare genetic mutation called AIPL1. With no established treatment available, they found hope in this pioneering trial.
“At around eight weeks old, babies should start looking at you and smiling, but Jace wasn’t doing that,”
his mother, DJ, recalled. His father, Brendan, described the diagnosis as shocking but also a relief, as it gave them a way forward.
A Simple Procedure with a Big Impact
Jace’s surgery was quick and minimally invasive, leaving him with only four tiny scars where healthy copies of the gene were injected into his retina. The healthy genes, delivered via a harmless virus, replaced the faulty ones, enabling retinal cells to function better and survive longer.
Within a month, the improvements were evident. Brendan noticed his son squinting for the first time as sunlight streamed through a window—a moment that confirmed the treatment was working.
“Before surgery, he couldn’t track objects at all. Now he picks things up, plays with toys, and reacts to his surroundings in ways he never did before,”
Brendan said.
While the treatment may not be a permanent fix, the progress has been remarkable, allowing Jace to better interact with the world around him.
Hope for More Children
Professor James Bainbridge, a retinal surgeon at Moorfields Eye Hospital, emphasized the significance of early intervention.
“Sight impairment in young children has a devastating effect on their development. Treating them in infancy with this new genetic medicine can transform their lives,”
he said.
The trial involved children from the US, Turkey, and Tunisia, all diagnosed with an aggressive form of Leber Congenital Amaurosis. Scientists at University College London developed the procedure, while specialists at Great Ormond Street Hospital led the surgical interventions.
Unlike standard clinical trials, this experimental therapy was offered under a special compassionate-use license for cases with no other treatment options. Each child received treatment in one eye to mitigate potential risks, and their vision was monitored over four years.
Impressive Results
Doctors at Moorfields Eye Hospital report that test results and parental observations provide compelling evidence of improved vision in all four children. Meanwhile, their untreated eyes continued to deteriorate as expected.
Professor Michel Michaelides from the UCL Institute of Ophthalmology hailed the outcomes as “hugely impressive,” highlighting the transformative potential of gene therapy. The research team will continue monitoring the children to assess the longevity of the treatment’s effects.
With such promising results, this breakthrough could pave the way for treating other childhood genetic eye disorders, offering hope to countless families around the globe.
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