Treatment for mitochondrial eye condition approved in England

Hundreds are set to receive the first-ever treatment licensed across Great Britain for a rare mitochondrial disease.

Mitochondrial diseases are rare genetic conditions affecting around one in 5000 people. Leber's hereditary optic neuropathy (LHON) is one of the most common mitochondrial diseases linked to mitochondrial DNA mutations, and causes rapidly deteriorating vision and eventual blindness. This week, the National Institute for Health and Care Excellence (NICE) approved the use of idebenone (Raxone) on the NHS in England to treat LHON in people aged 12 and over, making it the first mitochondrial disease treatment to be available to patients across Great Britain.

'LHON causes devastating visual loss and it is a life-changing diagnosis for the affected individual and their family,' explained Patrick Yu-Wai-Man, professor of ophthalmology at the University of Cambridge and NICE committee member. '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.'

Mitochondria are the sites of energy production within our cells. Idebenone works to treat LHON by improving the ability of mitochondria inside retinal and optic nerve cells to produce energy. While this drug does not cure patients with LHON, it has been found to stabilise and even restore vision in some early-stage patients in a Phase IV clinical trial. The study was led by Professor Yu-Wai-Man, and the findings, published in Cell Reports Medicine last year, were key to informing NICE's decision.

An estimated 250 people in England could be eligible to receive treatment but until now idebenone has only been available only for LHON patients in Scotland and Wales. Mitochondrial disease charities, the LHON Society and the Lily Foundation, played a large role in informing the decision to end the existing geographical inequality through championing patient voices to raise awareness of the impact LHON can have on patients and their families.

'This is a huge win for the mito community, and we're proud to have been a key stakeholder throughout the NICE submission process,' said Katie Waller, head of patient programmes at the Lily Foundation. 'While it isn't a cure, idebenone offers real potential to preserve or improve vision, giving people the chance to regain independence, confidence and a better quality of life. Plus the fact that there is now an NHS-approved treatment for mitochondrial disease brings hope for future drug development.'

This summer has seen enormous progress in mitochondrial disease research, from mitochondrial DNA base editing tools (see BioNews 1296) to reports of the birth of healthy children with donated mitochondria (see BioNews 1298a and 1298b). Targeted gene therapies are also in development for LHON (see BioNews 1076), but no other mitochondrial diseases currently have an approved treatment available in Great Britain.

NICE announced that NHS England will begin to provide the treatment within three months of the final guidance being published.

Mitochondrial donation pioneers Professor Mary Herbert and Professor Sir Doug Turnbull will discuss their work at the free-to-attend online event Mitochondrial Donation: Does It Work? What Next?, taking place on Wednesday 8 October 2025.

This will be a joint UK/Australian event. Find out more and register here.