Innovative eye gene therapy performed at Evelina London

Specialists from Evelina London Children's Hospital, St Thomas' Hospital, Great Ormond Street Hospital and Moorfields Eye Hospital have joined forces to carry out revolutionary eye gene therapy for children with a rare form of blindness.

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 developed and manufactured by MeiraGTx, a clinical-stage gene therapy company, and 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 2 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 2 separate procedures at the specialist children's hospital. The operation took around 1 hour to complete.

Muhammad continued: "We were really pleased to hear this treatment was on offer. Following several investigations at Moorfields Eye Hospital and Evelina London, we found out that Khadijah was eligible, which was great news.

"We came down from Hull and stayed overnight beforehand in hospital accommodation onsite, which really helped us. Both of her procedures went well, and we're optimistic to see how she progresses now with the treatment. The clinical team seem pleased with how they went as well, which is reassuring!"

Neruban Kumaran, honorary ophthalmology consultant and lead surgeon for the treatment program 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.

Khadijah is 1 of 4 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.

The first procedure at Evelina London was undertaken by a surgical team including Neruban Kumaran from Evelina London, Roger Wong from St Thomas' Hospital, and Chien Wong from Great Ormond Street Hospital.

Neruban 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 was previously developed by a team at University College London and Moorfields Eye Hospital, led by Professor Robin Ali, with the support of the National Institute of Health Research and Moorfields Eye Charity.

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