An 11-year-old girl from North Acton, west London, has become the first British individual to undergo groundbreaking gene therapy for Bardet-Biedl syndrome (BBS), a rare genetic condition that causes progressive vision loss leading to blindness in early adulthood. Catherine L’Estrange, diagnosed with BBS as an infant, received the innovative treatment involving the direct injection of healthy gene copies into her eye to combat the effects of the gene mutation.
Catherine expressed hope that the therapy would allow her to continue seeing and enjoying activities like reading, which she cherishes. BBS, affecting about one in 100,000 births in the UK, not only results in visual impairment but can also lead to kidney issues, learning challenges, obesity, and sometimes, extra digits.
The gene therapy, developed by MeiraGTx, was administered to Catherine at St Helier Hospital in a one-hour procedure. The treatment involved injecting healthy copies of the BBS10 gene into Catherine’s retina, aiming to halt the degeneration of retinal cells responsible for vision loss in BBS patients.
Catherine’s father, Reverend Timothy L’Estrange, expressed gratitude for the opportunity to preserve his daughter’s eyesight, emphasizing the potential life-changing impact it could have on her independence and quality of life. Specialists at St Helier, in collaboration with experts from Great Ormond Street and Moorfields Eye Hospital, identified Catherine as a suitable candidate for the gene therapy due to her specific genetic mutation.
The procedure, intended to stabilize or enhance vision, represents a significant advancement in the treatment of BBS, offering hope to affected individuals and their families. While early feedback from patients and families has been positive, the full extent of the therapy’s effectiveness will only be known over time as patients undergo follow-up assessments to monitor their vision improvements.
St George’s, Epsom, and St Helier Hospitals Group’s chief executive, Mat Shaw, highlighted the emotional impact of childhood blindness and commended the medical teams for providing hope to children with BBS, potentially reshaping the future for those battling this debilitating condition.
