11-Year-Old Becomes First UK Patient to Receive Gene Therapy for Bardet-Biedl Syndrome Blindness
核心洞察
Catherine L'Estrange, an 11-year-old from London, is the first UK patient and only the second globally to receive MeiraGTx's gene therapy targeting BBS10 (搜索)-associated retinal degeneration.
The hour-long procedure at St Helier Hospital involved injecting healthy copies of the BBS10 (搜索) gene directly into the retina to stabilize or potentially improve vision.
Bardet-Biedl syndrome (搜索) affects approximately one in 100,000 UK births, with patients typically progressing to blindness by their late teens or early twenties.
An 11-year-old girl from North Acton, London, has become the first patient in the United Kingdom to receive a pioneering gene therapy designed to halt the progressive vision loss caused by Bardet-Biedl syndrome (搜索) (BBS). Catherine L'Estrange underwent the innovative procedure at St Helier Hospital in March, marking only the second time this treatment has been administered anywhere in the world.
The therapy, developed by biotechnology company MeiraGTx, involves injecting healthy copies of a specific gene directly into the retina. The hour-long procedure required surgeons to remove the jelly inside Catherine's eye before delivering the therapeutic gene to the light-sensitive tissue at the back of the eye. In individuals with BBS, small cells in the retina progressively die, leading to irreversible blindness.
"By giving a healthy copy of the gene, it helps save those cells, and the hope is to either stabilise or improve vision," said Neruban Kumaran, consultant eye surgeon at Epsom and St Helier University Hospitals NHS Trust.
A Rare Genetic Condition with Devastating Consequences
Bardet-Biedl syndrome (搜索) is caused by mutations in one of 20 different genes and affects approximately one in 100,000 births in the UK. Patients typically experience blindness by their late teens or early twenties. Beyond vision loss, the condition can also manifest with kidney problems, learning difficulties, obesity, and occasionally extra fingers or toes.
Catherine was diagnosed at just a few weeks old, an unusually early diagnosis that allowed her family to plan for her future. Her father, Reverend Timothy L'Estrange, described how her sight had already begun deteriorating: "Our policy was to develop her independence and resilience as much as possible, ready for the inevitable loss of her sight, which began with her becoming night-blind, then colour-blind, and continued with her losing her peripheral vision."
The family had been told that gene therapy was many years away and would likely arrive only after Catherine had entirely lost her sight. "We were surprised and delighted when we learned this treatment had become available, and that Catherine would be one of the first patients in the world to receive it," Reverend L'Estrange said.
Targeted Therapy for BBS10 (搜索) Mutations
The gene therapy is specifically designed for patients with a BBS10 (搜索) gene mutation, one of the most common genetic subtypes among BBS patients. The team at St Helier collaborated with experts at Great Ormond Street and Moorfields Eye Hospital to identify eligible patients, using genetic testing to pinpoint which of the 20 genes is mutated based on individual symptoms.
Only one eye has been treated in Catherine's case, with the clinical team now monitoring outcomes. Prior to Catherine, the only other recipient was a 17-year-old girl from Canada, whose procedure took place at St Helier in August of the previous year. The parents of that patient, who remains anonymous, said: "This treatment has given our daughter a precious chance to preserve her vision, and we hope it will become a life-changing therapy for children with BBS10 (搜索) all over the world." Since Catherine's procedure, one additional younger child with BBS has also received the therapy.
Early Signals and Cautious Optimism
Following treatment, patients undergo regular clinical assessments including sight tests such as reading from a chart and identifying different shades of colours. Mr Kumaran reported that some patients have already noted improved vision in dim light, and early feedback has been positive. However, he cautioned that definitive results remain years away.
"There is a hope that it may improve vision slightly, but it's difficult to say," Mr Kumaran told the Press Association. "It's not going to leave someone with perfect vision. But the hope is to stabilise and/or improve vision. Only time will tell."
He added: "Early reports from the families have been very promising, and it gives us lots of hope. But in practice, it will take many years before we're sure."
For Catherine, the stakes are deeply personal. "If this treatment works, it will help me to carry on seeing things around me, and most of all I will be able to carry on reading books, which is one of my favourite things to do," she said.
A Future Without Alternative Treatments
There is currently no other treatment available for BBS-associated retinal degeneration. Mr Kumaran expressed hope that additional children, including those not yet born, may become eligible for the therapy in the future. "These families and the children have a lot of difficulties as it is, just because of all the other conditions they're affected by," he said. "And one of the things that causes a lot of anxiety is the worry that these children lose vision and possibly lose their independence."
Mat Shaw, chief executive of St George's, Epsom and St Helier Hospitals Group, underscored the significance: "As a father, I can't imagine how it feels to watch your child slowly go blind, and I'm so proud that our teams are offering hope to these children and their families, which aims to stop childhood blindness in its tracks and change what's possible for the future of children with this devastating condition."
Reverend L'Estrange summed up the family's perspective: "Our whole family has been so grateful for the opportunity to save Catherine's vision – it will be absolutely life-changing for her to retain any vision at all."