Six-year-old Jace Broadbin from Connecticut, born legally blind due to a rare genetic disorder, has regained partial vision thanks to an experimental gene therapy performed in the United Kingdom. This success is offering hope to families around the world affected by severe childhood blindness.
Jace was born with Leber Congenital Amaurosis (LCA), a severe genetic eye disorder caused by mutations in the AIPL1 gene, which results in the deterioration of retinal cells. From birth, he could only detect differences between light and dark — a reality that his parents, DJ and Brendan Broadbin, found difficult to accept.
“It was at eight weeks when babies are supposed to make eye contact. We noticed he wasn’t engaging visually at all,” said DJ Broadbin. After visiting several doctors, a specialist at Boston Children’s Hospital finally diagnosed Jace with LCA4, one of the most aggressive forms of the disease.
In 2020, a team of world-leading surgeons at Great Ormond Street Hospital (GOSH) and Moorfields Eye Hospital in London performed the experimental treatment. The procedure involved a 60-minute keyhole surgery where healthy copies of the AIPL1 gene were injected into Jace’s retina via a harmless viral vector.
The treatment, developed by scientists at the University College London Institute of Ophthalmology in partnership with MeiraGTx, was performed on just one eye due to the unknown risks involved. Four children from around the world, including Jace, were selected for this trial under a special license granted by the UK government.
Within weeks of the surgery, Jace began responding to light, a significant improvement. “He was spinning, dancing, and making nurses laugh right after surgery,” said his mother. “He started watching TV, recognizing toys, and even picking up tiny five-millimetre objects.”
By the time he returned home, Jace’s vision had improved so much that he could navigate his surroundings more confidently, recognize faces, and participate more actively in daily life.
Dr. Chien Wong, one of the surgeons who performed the procedure, said, “That level of vision recovery is far beyond what we expected. For children like Jace, partial sight changes everything — from social development to education.”
The study’s findings, published in The Lancet Medical Journal, have been hailed as the first successful gene therapy for one of the most severe forms of childhood blindness. The results have captured global attention, highlighting the potential of gene editing to transform lives.
Professor Michel Michaelides, lead researcher and consultant retinal specialist at Moorfields said “This is an effective treatment for a devastating condition. It represents a paradigm shift in genetic eye disorder therapy.”
Jace’s development has blossomed. At school, he receives support like pre-Braille classes and is more social, thanks to improved visual interaction. His parents say he now sleeps better, engages with his environment, and is building friendships more easily.
“Knowing he has some vision to help him navigate his world is something we once only dreamed of,” said DJ Broadbin. “Watching him discover light, movement, and faces — there’s no price that can be put on that joy.”
The Broadbins were connected to the London research team through Hope in Focus, a Connecticut-based nonprofit that supports families affected by LCA. Their connection began at a 2019 LCA Family Conference where they met Professor Michaelides.
“It was almost serendipitous,” said Courtney Coates, outreach director for Hope in Focus. “This is why we do what we do — to give families access to the latest medical science.”
Doctors continue to monitor Jace and the other children through imaging and vision tests. While the untreated eye deteriorated, the treated one continued to show remarkable progress. The challenge now lies in scaling the treatment for broader access.
“We’re just at the beginning,” said Dr. Wong. “We hope this opens doors for early intervention therapies and changes how we treat genetic blindness worldwide.”
