First children have gene therapy treatment for blindness at GOSH

The first paediatric patients have received a pioneering new gene therapy that can restore eyesight at Great Ormond Street Hospital.

Babies born with an inherited retinal disorder, known as Leber’s Congenital Amaurosis (LCA), have poor sight which swiftly deteriorates, with many ultimately losing their vision completely in childhood. The team at GOSH have now treated two patients with the condition.

The condition prevents cells in the eye from making proteins that are essential for normal vision. The gene therapy restores the ability to make normal proteins like that in a healthy functioning eye. Until now no treatment has been available.

This life-changing treatment for children and adults – voretigene neparvovec – is the first in a new generation of gene therapies directed at one of the genetic causes of LCA that can be directly administered to patients, in this case through an injection. Many patients in the trials recovered their night time vision with this treatment.

The treatment will initially be available from three national specialist centres in Manchester, London, and Oxford, with the option to roll-out the treatment to other hospitals. GOSH and Moorfields Eye Hospital are providing a joint service across the two Trusts in London, bringing together their specialist expertise to provide treatment to both children and adults.

Robert Henderson, consultant ophthalmologist at Great Ormond Street Hospital and Moorfields Eye Hospital said: “Loss of vision can have devastating effects, particularly for children and young people, but after many years of research it is incredibly exciting to be able to provide treatment to the first NHS-funded patients with this pioneering gene therapy.

“We are delighted to bring together the specialist expertise of both Great Ormond Street Hospital and Moorfields Eye Hospital to provide a treatment for this rare disease where there previously wasn’t anything available. This cutting-edge therapy, can make a huge difference for children and young people born with this life changing and rare disease.”

Patients will benefit from voretigene neparvovec, also known as Luxturna, after NHS England reached a NICE-endorsed deal with manufacturer Novartis to fund the drug.

It is expected that this will allow up to 100 patients living with a retinal dystrophy, caused by a specific gene mutation, to have access to treatment for the first time.

“While the first wave of gene therapies involved sampling a patient’s cells and manipulating them in the laboratory, Luxturna delivers the gene-correcting system directly into the body. There are many ongoing clinical trials of this kind of in vivo (‘in body’) ocular gene therapy, but Luxturna is the first to be licensed for use in the UK.”

Early evidence suggests the approach, using modified viruses known as an adeno-associated viral (AAV) vectors, could provide a safer and more effective long-term treatment for some conditions, particularly where a specific site – such as the eye – can be targeted, or where cells cannot be easily extracted from the patient.

The drug will be manufactured on site for the London centre at the newly opened Zayed Centre for Research into Rare Disease in Children which brings together clinicians and researchers under one roof to drive forward new treatments and cures for children with rare and complex diseases.

This work is underpinned by support from the National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) and GOSH Charity.