11-year-old becomes first UK patient to receive pioneering sight-saving gene therapy

An 11-year-old girl has become the first patient in the UK to receive a pioneering gene therapy designed to preserve vision in children with a rare inherited condition that causes progressive blindness.

Catherine L’Estrange, from west London, underwent the procedure at St Helier Hospital after being diagnosed with Bardet-Biedl syndrome (BBS) as a baby. The rare genetic condition affects around one in 100,000 births in the UK and typically leads to severe vision loss by late adolescence or early adulthood.

The treatment, developed by biotechnology company MeiraGTx, involves injecting healthy copies of a faulty gene directly into the retina after surgeons remove the vitreous gel from the eye. The aim is to protect the light-sensitive retinal cells that gradually deteriorate in people with the condition, helping to stabilise or potentially improve vision.

The procedure had previously been performed on only one other patient worldwide. Catherine has so far received treatment in one eye and will continue to undergo specialist follow-up assessments to monitor the therapy’s long-term effectiveness. Clinicians say it will take several years to fully understand the treatment’s outcomes, although early feedback from patients and families has been encouraging.

Specialists involved in the programme hope the therapy could offer a new treatment option for other children with the specific BBS10 gene mutation, providing the opportunity to preserve vision where no effective treatment previously existed.

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