Press release: NICE approves first treatment on the NHS for an inherited retinal dystrophy

Posted on: Wednesday 4 September 2019

Today the National Institute for Health and Care Excellence (NICE) has recommended  Luxturna (voretigene neparvovec) for use in the NHS in England, making it the first available treatment for an inherited retinal dystrophy.

Luxturna, a gene therapy, is only for the treatment of Leber congenital amaurosis type 2 (LCA2) and severe early-onset RP caused by mutations in a specific gene called RPE65.

Retina UK had been involved throughout the NICE decision-making process and worked hard to ensure its community’s voice was heard.

Chief Executive Tina Houlihan welcomed the news and described the decision as a pivotal moment.

“The progressive and debilitating nature of this rare genetic condition places a life-long physical, emotional and financial burden on patients and their families,” she said.

“NICE’s recommendation marks a pivotal moment as, for the first time, children and adults born with this condition have a much needed treatment option.

“We very much hope this is just the start and that other therapies will soon be discovered for a wide range of inherited retinal dystrophies and made available on the NHS.”

Ms Houlihan said the Retina UK community has played a critical role in influencing NICE’s decision.

“We were able to present the decision-making committee with a number of findings on the burden of disease from our recent Sight Loss Survey, completed by almost 1,000 of our community. The committee’s evaluation document specifically quotes our survey’s findings on mental health impact and concludes: ‘The committee acknowledged that RPE65-mediated IRD is a rare, serious and debilitating condition that severely affects the lives of patients, families and carers.’”

The news has been welcomed by those living with LCA2.

Robert Johnson, a 35-year-old civil servant, said: “I know all too well the personal impact of gradual sight loss experienced by thousands of people who, like me, live with an inherited retinal dystrophy. Yesterday, many of us could realistically expect to lose our sight completely. Today, for the first time, we have hope that such loss is no longer inevitable.

“Having participated in the first clinical trial of gene therapy for inherited retinal dystrophies, I am delighted that the dedication of so many people, over several decades, has finally resulted in the first treatment of its kind being approved for use on the NHS.”

People must have two faulty copies of RPE65, confirmed by genetic testing, as well as reasonable numbers of remaining viable retinal cells, in order to benefit from the treatment. Due to the severe, early-onset nature of this type of inherited retinal disease, eligible patients are likely to be children.

The NHS says treatment is expected to be available from early 2020 in three treatment centres around the UK.

Note to editors

Retina UK is a national charity (registered number 1153851) working for people with inherited sight loss. We fund medical research to understand these complex conditions and speed up the search for treatments and we provide information and support services to help more people lead fulfilling lives.

Retina UK has funded more than £16 million of research into inherited sight loss conditions in its 43-year history.

For interviews with Tina Houlihan, Chief Executive of Retina UK, or families affected by LCA2, please contact: