The UK’s national health provider has started treating patients with Leber’s Congenital Amaurosis (LCA) with a new sight-restoring gene therapy.
The National Health Service (NHS) began offering voretigene neparvovec, also known as Luxturna this month, which is said to be the first in a new generation of gene therapies that can be directly administered to patients via injection.
Many patients in the trials recovered their night-time vision with the treatment, which works by inserting a working copy of the mutated gene.
LCA is a rare type of retinal dystrophy estimated to effect 1 in 80,000 people in the UK and is caused when a person inherits two non-functional copies of a gene known as RPE65, leading to progressive vision loss beginning in infancy that advances to near-complete blindness in adulthood.
Luxturna is manufactured by Novartis, reportedly costing approximately £613,410 (AU$1.2 million) per patient.
The NHS reached a National Institute for Health and Care Excellence (Nice)-endorsed deal with Novartis to fund the drug and it is now estimated that as many as 100 patients could benefit.
Professor Robert MacLaren, consultant ophthalmologist at Oxford University Hospitals, said he was delighted to see gene therapy research finally come to fruition.
“We now have our first approved treatment – in this case for a rare form of genetic blindness,” he said. “The NHS has been leading the world in gene therapy research with several successful clinical trials.
“The recent decision by NICE to provide this novel treatment for our patients shows how the UK is maintaining its global position in delivering first class healthcare.”
Mr Assad Jalil, the consultant vitreoretinal surgeon who undertook the procedure at Manchester Royal Eye Hospital, said: “Treating inherited retinal diseases is extremely challenging but gene therapy offers hope to all such patients.
“Subretinal Luxturna injection is probably the first of many such gene therapy-based treatments, which will become available in the future. We at Manchester Royal Eye Hospital are proud to be a part of this genomic revolution.”
Mr Jake Ternent, a patient at Moorfields Eye Hospital in London was the first in the UK to receive the treatment. He is registered blind, with no night-time vision and deteriorating day-time vision since childhood.