An in-body gene therapy has been approved to treat a rare heritable form of blindness.
The NHS chief executive Simon Stevens announced a plan to fund the voretigene neparvovec treatment for retinal dystrophy at the Health Innovation Expo conference in Manchester on 4 September. 'Loss of vision can have devastating effects, particularly for children and young people, but this is truly life-changing treatment restores the sight of people with this rare and distressing condition,' he said.
The treatment targets a particular type of retinal dystrophy caused by a gene known as RPE65. When a person inherits two non-functional copies of this gene the result is progressive vision loss beginning in infancy, progressing to near-complete blindness in adulthood.
RPE65 mediated retinal dystrophies are rare, and fewer than 100 child and adult patients are likely to be eligible for the treatment, which is expected to become available from January 2020.
The treatment, also known as Luxterna, is delivered by a one-off injection below the retina. A viral vector delivers a working copy of the RPE65 gene into the retinal cells.
The National Institute for Health and Care Excellence (NICE)'s evaluation of clinical trial results shows that there is good evidence for improved vision and prevention of deterioration. Long term results are unknown but they considered 'it is biologically plausible that the treatment effect is likely to continue for decades'.
The drug's standard price is £613,410 per patient, but NHS England is understood to have reached a deal with the manufacturer to buy the drug at an undisclosed price that passes NICE's budget impact test.
'This latest deal reinforces the benefits for companies willing to engage with us and be pragmatic with their pricing – which is good news for patients, taxpayers and industry,' said Stevens.
Dr Mariya Moosajee, a consultant ophthalmologist at Moorfields Eye Hospital in London, said the announcement would 'give hope to patients where previously there was none'.
'Diagnosing and treating genetic eye conditions is extremely complex and challenging but 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,' she told the BBC.