NICE to Have

The RPE65 protein is responsible for conversion of all-trans retinyl back to 11-cis retinol in the retinal pigment epithelium (RPE), thereby enabling the continuation of visual cycle. Consequently, loss-0f-function mutations in RPE65 result in accumulation of all-trans retinyl in the RPE – and photoreceptor death. Such mutations are rare (for example, they account for around 16 percent of Leber congenital amaurosis cases, which itself has a prevalence of only 1 in ~50,000) but the profound cost of blindness to patients and society drives the field to seek a treatment for these individuals.

And that’s why the retinal dystrophy community was so encouraged by the December 2017 approval of Luxturna (voretigene neparvovec) in the US. This gene therapy delivers functional RPE65 DNA via a viral vector to the RPE via vitrectomy and subretinal injection. The expression of normal RPE65 results in the production of functional RPE65 protein, which halts toxic accumulation, RPE cell death and vision loss. British patients looked on with renewed hope – but how long would they have to wait to see this innovative treatment in the UK?

Well, not all that long. In September 2019, Luxturna was recommended for NHS use in both England and Wales for adults and children with RPE65-mediated retinal dystrophies. A Novartis press release emphasized the speed of the UK process (1): “On average it takes 38 weeks within the Highly Specialised Technologies program, [but] by working with NHS England and NICE early and constructively this was reduced to 20 weeks – an unprecedented timeframe.” And it’s not just Novartis who pleased with the rapid turnaround; NHS Chief Executive Simon Smith said, “Once again, the NHS is at the forefront of the genomic revolution, with patients in England among the first to benefit from this revolutionary treatment. This latest deal reinforces the benefits for companies willing to engage with us and be pragmatic with their pricing – good news for patients, tax payers and industry.” But what about those on the frontline of patient care?

Mariya Moosajee, Consultant Ophthalmologist at Moorfields Eye Hospital, UK, says, “I welcome this exciting news, which will give hope to patients where previously there was none. We are now in a position to tell patients who have a genetic change in the RPE65 gene that a treatment is available on the NHS that may help slow down their sight loss.” We’ve noted the rarity of the condition, so how many patients in the UK stand to benefit from this therapy? “There may be around 100-200 patients in the country,” says Moosajee. “Moorfields is a specialist genetic center and cares for one of the largest groups of patients with inherited sight loss across the world, that’s why we are thrilled that patients will be able to access this treatment in the UK.”