UK Girl Gets Groundbreaking Gene Therapy for Blindness

An 11-year-old girl from London has become the first patient in the UK to receive a novel gene therapy aimed at combating Bardet-Biedl syndrome (BBS), a rare condition leading to progressive vision loss. Catherine L'Estrange underwent the pioneering treatment, which involves injecting healthy gene copies directly into the eye.

BBS affects approximately one in 100,000 births in the UK and is caused by mutations in one of 20 different genes. Patients often experience blindness by their late teens or early twenties, along with other potential health issues. This hour-long procedure at St Helier Hospital utilized gene therapy developed by MeiraGTx, with surgeons injecting healthy gene copies into the retina.

Consultant eye surgeon Neruban Kumaran explained that the healthy gene copy aims to save retinal cells, offering hope for stabilizing or improving vision. Catherine expressed her hope that the treatment will allow her to continue reading. Only one other individual globally, a 17-year-old girl from Canada, had received this specific therapy before Catherine's procedure in March.

While early feedback from families has been promising, with some reporting better vision in dim light, it will take years to determine the full long-term effects. The treatment is specifically designed for patients with a BBS10 gene mutation. Experts are hopeful that this therapy will become life-changing for many children with BBS10 worldwide, offering a crucial intervention against childhood blindness.