This February Moorfields Eye Hospital in London and Radcliffe Hospital in Oxford have started treating patients affected by Leber congenital amaurosis (LCA) with the Luxturna gene therapy. LCA is a childhood-onset severe retinal dystrophy, which causes irreversible blindness for which, until now, no treatment was available. Luxturna (voretigene neparvovec) is also the first gene therapy approved for the treatment of an inherited eye disease.
People suffering from this form of LCA have inherited a faulty copy of the RPE65 gene from both parents. The Luxturna gene therapy, which is microinjected into the back of the eye, between the retina and the retinal pigment epithelium (RPE), provides patients with a modified virus carrying functional copies of the RPE65 gene, with the aim of restoring the function of the RPE, and halting photoreceptor cell death and vision loss.
Luxturna was developed by the American company Spark Therapeutics, which conducted clinical trials to prove its safety and efficacy. It was approved in the United States, in December 2017, and in Europe, in November 2018, where is marketed by the pharmaceutical company Novartis. The treatment costs £600,000 (over €700,000), but the National Health Service (NHS) has reached an agreement with Novartis on the price. It is estimated that just under 90 people in the UK will be eligible for the therapy.
The operation, which lasts about an hour, is first performed on one eye, and after a few weeks, the other eye is injected.
Professor James Bainbridge of Moorfields Eye Hospital in London told the BBC: “To be at the point now where we are able to offer this treatment on the NHS, is truly remarkable. This is the first example of what’s anticipated to be a whole new generation of treatments.”