Four young children have experienced significant improvements in their vision after receiving a groundbreaking new genetic treatment developed by researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital, with support from MeiraGTx.
The children were born with severe visual impairments due to a rare genetic disorder that affects the AIPL1 gene. This condition, known as retinal dystrophy, leaves those affected able to see only light and darkness upon birth. The malfunctioning of retinal cells caused by this defect results in legal blindness from an early age.
The new treatment aims to enhance the functionality of these damaged retinal cells and prolong their lifespan. The therapy developed by UCL scientists involves injecting healthy copies of the gene into the retina, located at the back of the eye using keyhole surgery. These genetic materials are delivered within a harmless virus that can infiltrate and replace the defective AIPL1 genes in the retinal cells.
Given how rare this condition is, initial trials were conducted on children from overseas. To address any potential safety concerns, these pioneering treatments began with one eye only for each child to monitor their response. Over a period of three to four years following treatment, all four children experienced remarkable improvements in the vision of their treated eyes; however, they lost sight in their untreated eyes.
The outcomes of this new therapy were published in The Lancet and reveal that gene-based treatments applied at an early age can substantially improve visual capabilities for those with severe genetic blindness. Successful gene therapies are already available on the National Health Service (NHS) for another form of genetic vision loss (RPE65 deficiency), which has been used since 2020. These new findings indicate that similar advancements may be possible in treating both rare and more common forms of inherited sight disorders using genetic medicine.
The research team is currently exploring ways to make this innovative treatment accessible on a larger scale. Professor James Bainbridge, a professor at UCL Institute of Ophthalmology and consultant retinal surgeon at Moorfields Eye Hospital, stated that early-stage gene therapy has the potential for transformative impact on lives severely affected by childhood blindness.
“Sight impairment in young children can have profound developmental consequences,” he said. “Our new genetic medicine treatment offers a revolutionary approach to treating infants with this debilitating condition and could herald a paradigm shift towards earlier intervention in such diseases.”
Professor Michel Michaelides, another professor of ophthalmology at UCL Institute of Ophthalmology and consultant retinal specialist at Moorfields Eye Hospital echoed these sentiments: “The outcomes are truly impressive, showcasing the remarkable potential of gene therapy to change lives profoundly,” he added.
A parent’s perspective on this treatment was also shared. DJ Bainbridge, Jace’s mother from Connecticut, USA, described their family’s journey with experimental medicine after receiving a diagnosis that Jace had an aggressive form of LCA (Leber Congenital Amaurosis). “Following the operation,” she explained, “Jace immediately became lively and playful; he responded to TV screens within weeks and recognized his favorite toy cars from several meters away. Bedtime now is much easier for him as well.”
Jace’s father Brendan continued: “We’re deeply grateful for this opportunity and the care Jace has received. Participating was an act of giving, ensuring our son navigates life with maximum potential while knowing it would benefit future research.”
The treatment was developed and manufactured at UCL under a Manufacturer’s Specials License (MSL) held by the institution, with MeiraGTx overseeing production, storage, quality assurance processes and supplying the therapy through their MSL. The procedure to administer this genetic medicine took place at Great Ormond Street Hospital. Subsequent assessments of these children were carried out in the NIHR Moorfields Clinical Research Facility; further research infrastructure was provided by the NIHR Moorfields Biomedical Research Centre.
Professor Robin Ali from UCL Institute of Ophthalmology and King’s College London’s Centre for Gene Therapy and Regenerative Medicine noted: “This work underscores the importance of UK clinical academic centers equipped with MSLs for bringing advanced therapies to individuals suffering from rare diseases.”
The research was partly supported by the National Institute for Health and Care Research (NIHR), MeiraGTx, Moorfields Eye Charity, thanks to generous donors. Additionally, Moorfields Eye Charity has sustained Professor Bainbridge’s work, allowing this experimental medicine program to expand including the initiation of gene therapy trials.
