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London, UK – Four young children born with a severe genetic sight impairment have experienced life-changing improvements in vision following a pioneering gene therapy treatment. The breakthrough, developed by scientists at the UCL Institute of Ophthalmology and Moorfields Eye Hospital with support from MeiraGTx, offers new hope for those affected by rare forms of blindness.
A Rare and Severe Condition
The children were born with a genetic deficiency affecting the AIPL1 gene, a condition known as retinal dystrophy. This rare disorder causes significant sight impairment from birth, leaving affected individuals able only to distinguish between light and darkness. The gene defect leads to malfunction and eventual death of retinal cells, rendering those affected legally blind.
A Revolutionary Treatment
Developed by UCL scientists, the innovative procedure involves injecting healthy copies of the AIPL1 gene directly into the retina through keyhole surgery. The genes are delivered using a harmless virus, allowing them to penetrate retinal cells and replace the defective gene. The treatment is designed to enhance retinal cell function and prolong their survival, potentially preventing total vision loss.
Remarkable Results
The first four children to undergo the treatment received therapy in only one eye to assess safety and effectiveness. Over the course of three to four years, all four children exhibited significant vision improvements in the treated eye, while the untreated eye continued to deteriorate. These findings, published in The Lancet, provide strong evidence that gene therapy can dramatically improve sight when administered at an early age.
A Step Toward Wider Availability
With successful gene therapy for another form of genetic blindness (RPE65 deficiency) already available through the NHS since 2020, researchers are now exploring ways to make this new treatment more widely accessible. The outcomes suggest that both rare and more common genetic vision impairments could potentially benefit from this revolutionary therapy in the future.
Expert Reactions
Professor James Bainbridge, professor of retinal studies at UCL Institute of Ophthalmology and consultant retinal surgeon at Moorfields Eye Hospital, emphasized the transformative impact of the treatment: “Sight impairment in young children has a devastating effect on their development. Treatment in infancy with this new genetic medicine can transform the lives of those most severely affected.”
Professor Michel Michaelides, professor of ophthalmology at UCL Institute of Ophthalmology and consultant retinal specialist at Moorfields Eye Hospital, hailed the development as a “paradigm shift” in treating childhood blindness: “We have, for the first time, an effective treatment for the most severe form of childhood blindness. The outcomes for these children are hugely impressive and show the power of gene therapy to change lives.”
Future Prospects
The procedure was carried out at Great Ormond Street Hospital, with assessments conducted at the NIHR Moorfields Clinical Research Facility. Research infrastructure support was provided by the NIHR Moorfields Biomedical Research Center. As gene therapy continues to advance, the hope is that more children worldwide will gain access to these life-changing treatments.
Disclaimer: This article is based on current research findings and does not constitute medical advice. Patients and families should consult healthcare professionals for guidance on genetic therapy options.
