The treatment has been approved as an option for treating RPE65-mediated inherited retinal dystrophies in people with vision loss caused by inherited retinal dystrophy from confirmed biallelic RPE65 mutations, who have sufficient viable retinal cells
The drug is injected under the retina and carries a functioning RPE65 gene to act in place of the faulty one, and is recommended based on data from a Phase I clinical trial which found that the difference in mean change in binocular MLMT score between patients treated and the control group was 1.6.
It's estimated that 86 people would be eligible for treatment with voretigene neparvovec in England
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.
Voretigene neparvovec is the first licensed gene therapy for vision loss caused by RPE65-meidated inherited retinal dystrophy.
In the gene therapy, a healthy copy of the gene is injected directly into the eye so a working protein can be produced. Patients have to have some functioning retinal cells for it to work.
Research has shown that, in the short term that the drug improves vision and prevents the condition from getting worse. The draft recommendations are now out for consideration by the company, healthcare professionals and patient groups. If there are no appeals, NICE expects to publish its final guidance next month. The treatment would then become available from January 2020. The voretigene neparvovec evaluation at NICE has taken 20 weeks instead of the average of 38 weeks within the Highly Specialised Technologies programme.
This treatment 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.
Researchers are hopeful this could pave the way for similar treatments for dry age-related macular degeneration (AMD) to be made available on the NHS. Evidence from clinical trials shows that, in the short term, voretigene neparvovec 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 list price of voretigene neparvovec is £613,410 per patient. This technology breached the Budget Impact Test, meaning it would have cost the NHS more than £20 million in one of the first three years after being introduced. However, the company has a commercial arrangement with NHS England making the treatment available to the NHS at a discount, the size of which is commercial in confidence.
This gene therapy is similar to that used for the treatment ofChoroideremia