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 actively 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.”

Who will be able to access the treatment?

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 this treatment. Due to the severe, early-onset nature of this type of inherited retinal disease, eligible patients are likely to be children.

The NHS in England and Wales is legally obliged to fund medicines and treatments NICE recommends. NICE will publish its final guidance document in mid-October and we expect the treatment to be available from early 2020 in three treatment centres around the UK.

What about Scotland, Wales and Northern Ireland?

The NHS in Wales will follow the NICE recommendation and will also be making Luxturna available at the beginning of 2020. We understand Northern Ireland is also likely to follow England’s lead and also that Luxturna may be made available in Scotland in 2020 (we expect that a decision will be made in December 2019).

How can I find out if my child or I am eligible for treatment with Luxturna?

You will need to see your ophthalmologist in the first instance; if you don’t currently have an ophthalmologist, your GP can refer you. The ophthalmologist may refer you for tests to check whether you have sufficient healthy retinal cells for the treatment to work. Luxturna provides healthy copies of the RPE65 gene but relies on retinal cells using their own molecular machinery to use these new genetic instructions; it won’t help in cells that have already degenerated. Your ophthalmologist will also need to arrange for you to have a genetic test if you don’t already know which gene is causing your sight loss, and the results for this may take some time. The test must show that you have two faulty copies of RPE65.

Around 86 people are likely to be eligible for treatment in England.

If I’m eligible, what happens next?

Your ophthalmologist will refer you to a treatment centre – there will be three of these in the UK.

Luxturna is administered via an injection into the retina, which takes place under general anaesthetic. The treatment only needs to be given once but each eye is treated separately, with around six to eight weeks between the two operations. You will then need several follow up appointments at the treatment centre.

There is a risk of side effects, including further sight loss. These will be explained to you at the treatment centre.

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