The NHS has started to offer people with an inherited retinal disorder, known as Leber's Congenital Amaurosis (LCA) a new gene therapy that restores eyesight.
LCA is a rare type of retinal dystrophy estimated to effect 1 in 80,000 people in the UK. It 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.
The treatment, voretigene neparvovec, also known as Luxturna, inserts a working copy of RPE65 via a one-off injection below the retina. This is the first in a new generation of gene therapies manufactured by Novartis, costing approximately £613,410 per patient (see BioNews 1014).
NHS England has bought the drug at a reduced cost, making it possible to offer the treatment to an estimated 86 people each year.
Jake Ternent, a patient at Moorfields Eye Hospital in London was the first in the UK to receive the treatment. Ternent is registered blind, with no night-time vision and deteriorating day-time vision since childhood.
'After participating in 15 years of research I now have the golden opportunity to be the first person in the UK to have this treatment on the NHS. I am hopeful that this procedure will not only improve my own quality of life but that it will be able to help others with my condition too,' said Ternent.
This gene therapy treatment is only suitable for people who still have some sight left, and will most benefit children with RPE65 retinal dystrophy, where their sight loss could be halted before permanent damage. It is currently unknown how long the benefits of the treatment will last.
Professor Robert MacLaren, who has pioneered research into gene therapies for preventing blindness, told the BBC: 'This is very exciting - this is the first approved NHS gene therapy for an eye disease, but there are opportunities to use gene therapy to treat other diseases in future, not only in the eye.'
The treatment will initially only be available to adults at three specialist centres in Manchester, London, and Oxford with the option to roll-out the treatment to other hospitals. Great Ormond Street Hospital in London has also begun treating two children.
Professor Stephen Powis, NHS medical director, said: 'Once again, the NHS is at the forefront of the genomic revolution with patients in England among the first to benefit from this new form of treatment – a modern day miracle – as part of the Long Term Plan.'