UCL Institute of Ophthalmology


Innovative eye gene therapy performed targeting vision loss

23 April 2024

A revolutionary eye gene therapy based on UCL and Moorfields research and developed by a UCLB spinout has been carried out in London for children with a rare form of blindness. 

The treatment, developed and manufactured by MeiraGTx, took place at Evelina London Children's Hospital, performed jointly with specialists from St Thomas' Hospital, Great Ormond Street Hospital and Moorfields Eye Hospital.

Children with the severe genetic eye condition known as Leber Congenital Amaurosis-4 (LCA4) are born with profound visual impairment, and can only distinguish between light and dark. LCA4 is an otherwise untreatable, rare, inherited condition due to defects in the AIPL1 gene, causing light-sensitive cells in the retina to die. Evelina London is currently the only hospital in the world carrying out this procedure for children with the condition. 

The gene therapy was initially developed by a team at UCL and Moorfields Eye Hospital, led by Professor Robin Ali, with the support of the National Institute of Health Research and Moorfields Eye Charity, before being taken forward by MeiraGTx, a clinical-stage gene therapy company. The therapy was provided to Evelina London on a ‘specials’ license for compassionate use. The gene therapy treatment is delivered via keyhole surgery, and injects healthy copies of the gene into the patient’s eye.

Khadijah Chaudhry, 3, from Hull, was the first patient at Evelina London to have this ground-breaking eye gene therapy. Khadijah’s dad, Muhammad Muddassir, a doctor in infectious diseases, said: “Khadijah was just two years old when she was diagnosed with the rare condition caused by the AIPL1 gene. When she was a baby we noticed she was moving her eyes abnormally, and her vision was slowly deteriorating over time. She still had some functional vision, and could play and walk independently but always supervised. Her eyesight was affecting her confidence and having her parents around reassured her, as her confidence dipped when she was by herself or in unfamiliar surroundings.”

Khadijah had both her eyes injected with the pioneering treatment, in two separate procedures at the specialist children’s hospital. The operation took around one hour to complete. 

Neruban Kumaran, honorary ophthalmology consultant and lead surgeon for the treatment programme at Evelina London, said: “We’re really pleased with how Khadijah’s surgeries went. Her mother and father have already noticed an improvement in her vision which is very promising.” 

Mark Fisher, Associate Director BioPharm at UCL Business (UCLB), the commercialisation company for UCL, added: “It is great to see the first of the gene therapies for retinal disease licensed from UCL being used in the clinic. I hope this is the first of a number of therapies originating from research at the UCL Institute of Ophthalmology to provide patient impact in the inherited retinal dystrophy sector.”

Khadijah is one of four patients from across the world who have received the therapy to date at the specialist children’s hospital, with the support of Evelina London Children’s Charity. Mr Kumaran continued: “Through delivering this one-off gene therapy to children with LCA4, we hope to preserve or improve their vision. Vision loss from LCA4 can have a devastating impact on children and their families with this treatment offering hope to those affected by this condition.”

The treatment has been provided previously to a small number of children at Great Ormond Street Hospital.