Page URL:

NHS to provide gene therapy for rare eye disease

9 September 2019
Appeared in BioNews 1014

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.

Gene therapy for rare eye disease set to be offered on NHS
BBC |  4 September 2019
NHS chief announces new gene therapy to treat blindness
European Pharmaceutical Manufacturer |  4 September 2019
NHS to fund revolutionary treatment for blindness in children
NHS England |  4 September 2019
NICE recommends novel gene therapy treatment for rare inherited eye disorder
National Institutes of Health and Care Excellence |  4 September 2019
2 March 2020 - by Dr Hannah Somers 
A clinical trial using gene therapy for treating a common cause of genetic blindness published positive results in Nature Medicine...
24 February 2020 - by Dr Jay Stone 
The NHS has started to offer people with an inherited retinal disorder, known as Leber's Congenital Amaurosis (LCA) a revolutionary new gene therapy, which can restore their eyesight...
3 February 2020 - by Jakki Magowan 
The US Food and Drug Administration has released seven new guidelines that will help scientists safely develop novel gene therapy products...
28 October 2019 - by Dr Rosie Morley 
The Bill and Melinda Gates Foundation has teamed up with the National Institutes of Health (NIH), the US national science funding body, to pledge US$100 million each over four years towards development of gene therapies for HIV and sickle cell anaemia...
21 October 2019 - by Jen Willows 
The Department of Health and Social Care have launched a survey to determine the obstacles to improving care for people living with rare disease...
25 February 2019 - by Dr Loredana Guglielmi 
An 80-year-old woman from Oxford – Janet Osborne – has undergone the world's first gene therapy operation to target the root cause of age-related macular degeneration...
10 September 2018 - by Dr Kimberley Bryon-Dodd 
Seven scientists from the USA and the UK have shared the largest annual award related to vision research...
20 August 2018 - by Dr Kimberley Bryon-Dodd 
Scientists have partially restored sight in mice with congenital blindness by using gene therapy to activate retinal stem cells...
16 October 2017 - by Rikita Patel 
The US Food Drug and Administration advisory committee has backed the use of gene therapy to treat a hereditary disease for the first time...
5 May 2015 - by Dr Greg Ball 
Retinal cells derived from human embryonic stem cells have been successfully transplanted into four Korean patients with macular degeneration...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.