Gene Therapy Approval for Inherited Retinal Dystrophy

Peter Russell

September 09, 2019

A novel gene therapy treatment for people with vision loss caused by inherited retinal dystrophy was recommended by the National Institute for Health and Care Excellence (NICE).

It said voretigene neparvovec (Luxturna, Novartis) should be available on the NHS for patients with confirmed biallelic RPE65 gene mutations who have enough viable retinal cells.

It is estimated that 86 people in England who have the condition would be eligible for treatment.

NICE Highlighted Positive Clinical Results

Voretigene neparvovec is an adeno-associated virus vector-based gene therapy. It is the first licensed gene therapy for vision loss caused by RPE65-mediated inherited retinal dystrophy.

The gene therapy is injected directly into the retina by a surgeon. It works by introducing a healthy copy of the defective RPE65 gene into the retinal cells, enabling patients to produce functional RPE65 protein.

In final draft highly specialised technologies appraisal guidance, NICE said that evidence from clinical trials showed that, in the short term, voretigene neparvovec improved vision and prevented the condition from getting worse. Despite a lack of long-term clinical evidence, it was biologically plausible that the treatment effect was likely to continue for decades, it said.

Price Discount

The list price of voretigene neparvovec is £613,410 per patient. However, the manufacturer agreed to a price discount during discussions with NHS England. The confidential commercial arrangement meant that the technology did not breach the Budget Impact Test, under which NHS England engages companies in commercial discussions about technologies whose costs may exceed £20 million in any of their first 3 years.

Meindert Boysen, director of the Centre for Health Technology Evaluation at NICE, said: "This is a highly innovative treatment for a very distressing, inherited condition so we are pleased the company has worked with us and NHS England and NHS Improvement to allow us to offer these families hope for the future.

"The company's willingness to work with us early and constructively has allowed us to publish this guidance on a much faster timeline than normal, which is good news for patients."

Evaluation of voretigene neparvovec took 20 weeks instead of the average of 38 weeks within the highly specialised technologies programme.

Charities Welcomed 'Pivotal' Decision

Retina UK welcomed the recommendation. Tina Houlihan, the charity's chief executive, said: "The progressive and debilitating nature of this rare genetic condition places a life-long physical, emotional, and financial burden on patients and their families.

"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."

Dr Rubina Ahmed, head of research at Fight for Sight, said: "It is well known that genetic eye conditions can be difficult to diagnose and to treat.

"The provision of this new treatment is extremely promising news for patients with a genetic change in the RPE65 gene, for whom the treatment will now be available on the NHS and will help to slow down their sight loss."

The draft NICE guidance is now out for consultation, with final guidance expected on 9th October 2019.


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