Rare Daily Staff

The United Kingdom’s National Institute for Health and Care Excellence (NICE) has issued a draft guidance recommending the use of Novartis’ gene therapy treatment Luxturna by the National Health Service for a rare inherited eye disorder.

Novartis estimates that there are 86 people in the United Kingdom who are eligible for treatment with Luxturna because they have vision loss caused by inherited retinal dystrophy from confirmed RPE65 gene mutations and they still have enough viable retinal cells.

Inherited retinal dystrophies are a group of eye diseases caused by gene mutations which result in the gradual degeneration of the light sensitive cells (photoreceptor cells) on the retina at the back of the eye.

The RPE65 gene provides instructions for making a protein that is essential for normal vision. RPE65-mediated inherited retinal dystrophies are rare and serious. Usually diagnosed in childhood, they involve progressive loss of vision that ultimately leads to near-total blindness and severely affects the quality of life of people with the condition, their families and caregivers. Current treatment is supportive care, such as the use of low-vision aids.

Luxturna (voretigene neparvovec) is the first licensed gene therapy for vision loss caused by RPE65-meidated inherited retinal dystrophy.

“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 Improvement to allow us to offer these families hope for the future,” said Meindert Boysen, director of the Centre for Health Technology Evaluation at NICE, said. “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.”

Luxturna 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 people with the condition to produce functional RPE65 protein.

Evidence from clinical trials shows that, in the short term, Luxturna improves vision and prevents the condition from getting worse. There is no long-term clinical evidence, but the committee considered it is biologically plausible that the treatment effect is likely to continue for decades.

The evaluation of Luxturna at NICE took 20 weeks instead of the average of 38 weeks.

Novartis worked with NHS England to reach a commercial arrangement that ensured the technology did not breach its Budget Impact Test.

Novartis’ Luxturna is the second innovative gene therapy that NICE has produced positive guidance on in its highly specialized technology program – after Orchard Therapeutics’ Strimvelis for treating adenosine deaminase deficiency–severe combined immunodeficiency was recommended in February 2018.

The draft guidance is now with consultees, including the company, healthcare professionals and patient/caregiver organizations who have the opportunity to appeal against the draft recommendations. If no appeals are received NICE expects to publish final guidance next month.

Photo: Meindert Boysen, director of the Centre for Health Technology Evaluation at NICE

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