Gene therapy treatment for blindness underway

Author: Adrian O'Dowd

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The first group of patients in England have begun receiving what is described as a “revolutionary” new gene therapy that could restore their eyesight.

Babies born with an inherited retinal disorder known as Leber’s Congenital Amaurosis, have poor sight which swiftly deteriorates, with many ultimately losing their vision completely in childhood.

A treatment for children and adults – voretigene neparvovec also known as Luxturna – is the first in a new generation of gene therapies that can be directly administered to patients, in this case through an injection.

Many patients in trials recovered their night time vision with this treatment for which NHS England reached a NICE-endorsed deal with manufacturer Novartis to fund the drug.

It is expected that this will provide access to treatment for the first time to around 100 patients living with a retinal dystrophy, caused by a specific gene mutation, to have access to treatment for the first time.

The condition blocks messages for making proteins in the eye that are essential for normal vision and the drug works by recreating these processes like that in a healthy functioning eye.

The treatment for adults will initially be available from three national specialist centres in Manchester, London, and Oxford, with the option to roll-out the treatment to other hospitals.

NHS England said the treatment was part of the genomic revolution promised in the NHS Long Term Plan.

Jake Ternet, a patient at Moorfields Eye Hospital was the first in the UK to receive the treatment. Jake had no night time vision and his daylight vision has been deteriorating since childhood, now leaving him blind.

Jake said: “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.”

Manchester Royal Eye Hospital’s (MREH’s) first patient, Lee Morris from Lancashire, said “I am very grateful to be the first patient to undergo this treatment at MREH.

“Early indications are that the treatment was a success, and I am hopeful this treatment will open so many more doors for me – not just at work in being able to go for promotions, but to increase my confidence in going out alone.”

Matthew Wood, a patient in Oxford, speaking ahead of the operation, said: “There’s a mix of nervousness and excitement. I’ve known I’ve had retinitis pigmentosa since I was a child, but the specific gene was identified just a few years ago, and that’s what’s made this treatment possible.

“I have had many eye tests over the years and I am registered blind, but actually what I realise is I value the sight that I have, and if this treatment can prevent further deterioration, then that’s a big thing for me.”

NHS England said that through the NHS Long Term Plan, the NHS was committed to freeing up funds needed to invest in world-class, cutting edge technologies and treatments.

Professor Stephen Powis, NHS medical director, said: “Loss of vision can have devastating effects, particularly for children and young people, but this truly life changing treatment offers hope to people with this rare and distressing condition.

“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.”


Editorial team, Wilmington Healthcare

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