RARE Daily

First UK Patients Begin Gene Therapy Treatment for Blindness through NHS

February 18, 2020

The U.K.’s National Health Service said it treated the first patients in its system to receive Luxturna, a gene therapy that can restore eyesight to patients with the genetic condition Leber’s congenital amurosis under the NHS Long-Term Plan.

The NHS Long Term Plan is an effort by the U.K.’s national healthcare system to free up funds needed to invest in cutting edge technologies and treatments.

Patients in the United Kingdom are able to gain access to Luxturna after NHS England reached a National Institute for Health and Care Excellence (NICE)-endorsed deal with the gene therapy’s manufacturer Novartis over the cost of the treatment. Luxturna won approval in the United States at the end of 2017. In October 2019, NICE, the UK’s drug price watchdog, issued a recommendation for Luxturna based on a commercial agreement NHS reached with Novartis.

It is expected that the NHS Long-Term plan will provide access to treatment for the first-time for patients living with a retinal dystrophy, caused by a specific gene mutation. Until now, no treatment has been available and it is estimated that as many as 100 patients could benefit from the new gene therapy.

Babies born with an inherited retinal disorder, known as Leber’s congenital amaurosis, have poor sight that deteriorates. The condition blocks messages for making proteins in the eye that are essential for normal vision. The drug works by recreating these processes that occur in a healthy functioning eye. People born with the condition often lose their vision in childhood. Luxturna is the first of a new generation of gene therapies that can be directly administered to patients. Many patients in clinical studies of the gene therapy recovered their night vision with this treatment.

The treatment for adults will initially be available from three national specialist centers in Manchester, London, and Oxford. Great Ormond Street Hospital in London, which played a key role in the research behind the treatment, has already begun the treatment on two children – sisters with LCA.

Jake Ternent, a patient at Moorfields Eye Hospital, was the first in the United Kingdom to receive the treatment. Jake had no night vision and his daylight vision had been deteriorating since childhood, and he is now blind.

“We are now able to provide a treatment for this rare disease where previously there wasn’t anything available – this could potentially be life changing for Jake and other patients in his position,” said Robert Henderson, consultant ophthalmologist at Moorfields Eye Hospital and Great Ormond Street Hospital.

Tina Houlihan, chief executive of Retina UK said her organization hopes that this will be just the first of other therapies that will soon be discovered and made available through the NHS for people in the United Kingdom living with a wide range of inherited retinal dystrophies.

“The progressive and debilitating nature of this rare genetic condition has a life-long physical, emotional and financial impact on those living with inherited sight loss and their families. We, and our community, will be eager to hear about progress after treatment,” she said. “This pivotal moment demonstrates what can be achieved when industry, the NHS and charities like Retina UK, who represent the patient voice, work together to ensure the best outcomes for families.”

Photo: Jake Ternent, a patient at Moorfields Eye Hospital, was the first in the United Kingdom to receive the treatment

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