Drug for rare disease that causes sudden vision loss available on NHS in England

A treatment for a debilitating genetic disease that causes sudden sight loss is now available on the NHS in England.

Evidence shows idebenone may improve eyesight in people with Leber Hereditary Optic Neuropathy (LHON), as well as boosting their quality of life.

Experts said the approval of the drug by the National Institute for Health and Care Excellence (Nice) will be a “great relief” to those with LHON, which is estimated to affect around 2,000 people in England.

LHON is a rare inherited disease caused by changes in the parts of cells which are responsible for generating energy, known as mitochondria.

It primarily affects the cells that make up the optic nerve, which carries visual information from the eye to the brain.

LHON is typically painless but can progress to severe vision loss and blindness within weeks. Symptoms can include blurred vision and a loss of colour vision.

Idebenone, sold under the brand name Raxone and made by Chiesi, is taken as two tablets three times a day.

It works by restoring the cell’s ability to produce energy and allowing inactive eye cells to function again.

The drug has been approved by Nice as a treatment option for people over the age of 12 with LHON, with about 250 patients expected to be eligible.

While not everyone who is treated with idebenone will benefit, evidence shows that the treatment is effective in around half of patients.

Patrick Yu-Wai-Man, a professor of ophthalmology and honorary consultant neuro-ophthalmologist at the University of Cambridge, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, said: “LHON causes devastating visual loss and it is a life-changing diagnosis for the affected individual and their family.

“England is now in line with the rest of the United Kingdom with idebenone now available through the NHS.

“This will come as a great relief to the LHON community in this country, bringing hope to those who have experienced significant visual loss from this mitochondrial genetic disorder.”

One patient named Lily was treated with idebenone at Moorfields before the drug was available on the NHS. She was diagnosed with LHON in 2022.

“I initially attributed the change in my sight to GCSE stress and fatigue. My optician and GP didn’t know what to do with me, neither did my local hospital, which was stressful,” Lily said.

“Losing my sight was the most devastating thing I have experienced. A family member mentioned idebenone, but little changed at first. I could not count fingers in front of my face, but can now, mostly with accuracy.”

Lily can now use a mobile phone, an iPad and a laptop so she can study and communicate. She completed her GCSEs, went on to complete her A levels and now studies psychology at the University of York.

She can also run guided with a group and completed the Lock Ness Marathon in October 2023.

“I’m able to cook and take care of myself. I’m able to get out and about with the support of my white cane, affectionately named Harry by my family,” she said.

“I’m grateful to have regained some sight and some peripheral vision. What I can see now is not a full recovery, but it is an improvement from where I was.”

LHON is the most common type of mitochondrial disease, a group of genetic conditions that affect how mitochondria in your cells produce energy.

This is the first time Nice has approved a treatment for any mitochondrial condition, although it has already been available for limited use in Wales and Scotland.

Helen Knight, director of medicines evaluation at Nice, described LHON as a “debilitating condition that has a hugely significant impact on people, robbing them of their independence and quality of life”.

“The evidence shows idebenone could improve people’s eyesight and help their quality of life,” she added.

“We will continue to get the best care to people, fast, ensuring value for the taxpayer.”