11-year-old becomes first UK patient to receive gene therapy for rare condition
- Catherine L’Estrange, an 11-year-old from London, has become the first patient in the UK to receive groundbreaking gene therapy for Bardet-Biedl syndrome (BBS), a rare condition causing progressive sight loss.
- The innovative treatment, performed at St Helier Hospital in March, involved injecting healthy copies of a specific gene directly into her eye’s retina to stabilise or potentially improve her vision.
- Catherine, who was diagnosed with BBS as a baby, hopes the procedure will enable her to continue her favourite hobby of reading books, as patients with BBS typically experience blindness by their early twenties.
- This pioneering procedure had only been performed on one other individual globally before Catherine, a 17-year-old Canadian girl, and has since been carried out on one other younger child.
- While early feedback from patients and families has been positive, suggesting improved vision in dim light, surgeons caution that it will take several years to determine the full long-term results of the therapy.
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