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Hospital Healthcare Europe
Hospital Healthcare Europe

NICE recommends gene therapy in retinal dystrophies

5 September, 2019  

Novartis has announced that Luxturna® (voretigene neparvovec) has been recommended for use on the NHS as an option for treating RPE65-mediated inherited retinal dystrophies.

Children and adults born with a mutation in both copies of the RPE65 gene can suffer from a range of symptoms from night blindness (nyctalopia), loss of light sensitivity, loss of peripheral vision to loss of sharpness or clarity of vision, potentially progressing to total blindness. Currently, in the UK, it is estimated that 180 patients have mutations in both copies of the RPE65 gene, with less than 50% diagnosed following a genetic test.

Voretigene neparvovec is injected under the retina and carries a functioning RPE65 gene to act in place of the faulty one. It will be the only treatment available in England and Wales for adults and children with this rare progressive genetic condition.

We are delighted with today’s decision by NICE to recommend voretigene neparvovec for use in patients with vision loss due to a genetic mutation in both copies of the RPE65 gene” said Haseeb Ahmad, Country President of Novartis UK and Managing Director (UK, Ireland and Nordics) of Novartis Pharmaceuticals. “Through effective collaboration with NICE and NHS England, it has been possible to secure rapid access to the first and only one-time gene therapy for patients living with this condition.”

This is the second time Novartis has worked closely with NICE and NHS England to achieve fast access to a cell and gene therapy. While on average it takes 38 weeks within the Highly Specialised Technologies programme, by working with NHS England and NICE early and constructively this timeline was reduced to 20 weeks – an unprecedented timeframe.

The patient burden is high for those born with a mutation in both copies of the RPE65 gene. The progressive and debilitating nature of this rare genetic condition places a life-long physical, emotional and financial burden on patients and their families,” said Tina Houlihan, Chief Executive at Retina UK. “NICE’s recommendation of voretigene neparvovec marks a pivotal moment as, for the first time, children and adults born with this condition have a much needed treatment option.”

The progression of inherited retinal degeneration caused by RPE65 gene mutations leads to blindness, which has a profound effect on the lives of affected patients and their carers” said Robert MacLaren, Professor of Ophthalmology at the University of Oxford and Consultant Ophthalmologist at the Oxford Eye Hospital. “Until now, patients had no other pharmacological treatment options and I am absolutely delighted with the decision by NICE to recommend this one-time gene therapy. As a clinician, I believe the true value of voretigene neparvovec is its potential to improve vision in children and adults, and enabling them to participate fully at school, work and in their private lives.”

The NICE recommendation is based on data from a Phase I clinical trial, its follow-up trial, and the first randomised, controlled Phase III gene therapy trial for an inherited disease. The primary endpoint of the Phase III trial was mean change from baseline to one year in binocular multi-luminance mobility test (MLMT). The difference in mean change in binocular MLMT score between patients treated with voretigene neparvovec (n=21) and the control group (n=10) was 1.6 (95% confidence interval: 0.72-2.41; p=0.001). Differences in binocular MLMT performance were observed in the intervention group at day 30 and were maintained over the remaining follow-up visits throughout the four-year period, compared to no change in the control group.