Healthcare (Commonwealth Union) – Gene therapy is a groundbreaking medical approach that aims to treat or prevent diseases by modifying a person’s genetic material. Instead of relying solely on drugs or surgery, gene therapy targets the root cause of many disorders—faulty genes. With advancements in biotechnology, gene therapy has moved from experimental trials to real-world treatments, offering hope for previously incurable conditions.
Four young children have experienced significant improvements in their vision after receiving a groundbreaking new genetic treatment, developed by the University College London (UCL) Institute of Ophthalmology and Moorfields Eye Hospital, with support from MeiraGTx.
The children were born with a severe visual impairment caused by a rare genetic mutation that has an impact on the AIPL1 gene. This condition, a type of retinal dystrophy, leaves those affected with only enough vision to differentiate between light and dark. The genetic defect leads to the malfunction and death of retinal cells, rendering the children legally blind from birth. The new therapy aims to enhance the function and longevity of these retinal cells.
The innovative procedure, pioneered by UCL researchers, involves injecting healthy copies of the AIPL1 gene into the retina at the back of the eye via keyhole surgery. The healthy genes are wrapped within a benign virus, facilitating their entry into retinal cells to substitute the defective gene.
The illness is exceedingly uncommon, and the initial children treated were from overseas. To mitigate safety hazards, the therapy was originally delivered to only one eye of each child. Throughout a span of three to four years, all four youngsters had significant visual enhancements in the treated eye, whereas their untreated eye culminated in blindness.
The research team is currently working on ways to expand access to this revolutionary treatment for a broader range of patients.
Professor James Bainbridge, a leading expert in retinal studies at the UCL Institute of Ophthalmology and a consultant retinal surgeon at Moorfields Eye Hospital, indicated that vision impairment in young children has a profound impact on their development. Early treatment with this cutting-edge genetic therapy has the potential to dramatically change the lives of those most severely affected.
Professor Michel Michaelides, a professor of ophthalmology at the UCL Institute of Ophthalmology and a consultant retinal specialist at Moorfields Eye Hospital, highlighted that, for the first time, they have an effective treatment for the most severe type of childhood blindness. This breakthrough could pave the way for earlier interventions. The results seen in these children are nothing short of extraordinary and demonstrate the transformative power of gene therapy in changing lives.
The parents of Jace, a child from Connecticut, USA, recounted their experience with the experimental treatment that became available after Jace was diagnosed with a severe form of Leber Congenital Amaurosis (LCA).
Jace’s mother DJ says “After the operation, Jace was immediately spinning, dancing and making the nurses laugh. He started to respond to the TV and phone within a few weeks of surgery and, within six months, could recognise and name his favourite cars from several metres away; it took his brain time, though, to process what he could now see. Sleep can be difficult for children with sight loss, but he falls asleep much more easily now, making bedtimes an enjoyable experience.”
Jace’s father, Brendan, expressed, his gratitude indicating that they are incredibly thankful for this opportunity and the care Jace has received. When they were first presented with the chance to participate, they wanted to give him every possible advantage to thrive in the world. He further indicated that they also recognized the significant impact this could have on future research and how our involvement could benefit others.
