LONDON GIRL FIRST IN UK TO RECEIVE GENE THERAPY FOR RARE SIGHT LOSS

Catherine L'Estrange, an 11-year-old from North Acton in London, has become the first patient in the United Kingdom to receive gene therapy for Bardet-Biedl syndrome, a rare inherited condition that causes progressive blindness. The procedure took place at St Helier Hospital in March and involved injecting healthy copies of a faulty gene directly into the retina, the light-sensitive tissue at the back of the eye. The hour-long operation was performed by Neruban Kumaran, consultant eye surgeon at Epsom and St Helier University Hospitals NHS Trust. Only one other patient globally had received the treatment prior to Catherine's operation.

Bardet-Biedl syndrome results from mutations in one of 20 different genes and affects approximately one in 100,000 births in the UK. The condition typically causes blindness by late adolescence or early adulthood and can also produce kidney problems, learning difficulties, obesity, and occasionally additional fingers or toes. Catherine was diagnosed at several weeks old, earlier than most children with the syndrome, which is usually identified during primary school years. The gene therapy was developed by biotechnology company MeiraGTx and works by providing healthy gene copies to prevent the death of light-detecting cells in the retina.

According to Mr Kumaran, the treatment aims to stabilise or improve Catherine's vision. Catherine said the therapy would allow her to continue reading, described as one of her favourite activities. Her father, Reverend Timothy L'Estrange, stated that the family had focused on developing her independence and resilience as her sight progressively deteriorated, beginning with night blindness and progressing to colour blindness and loss of peripheral vision.