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NHS England approves first-ever mitochondrial disease treatment

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The National Institute for Health and Care Excellence (NICE) has approved a treatment for Leber’s Hereditary Optic Neuropathy (LHON), called Idebenone (Raxone), in patients 12 and above. The study that led to the approval was supported by NIHR Moorfields Biomedical Research Centre. LHON is a rare genetic disease that can lead to sudden loss of vision. stylised map of the united kingdom from space with lights and colourful outlines  
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Professor Patrick Yu-Wai-Man, PhD, FRCPath, FRCOphth, Professor of Ophthalmology and Honorary Consultant Neuro-ophthalmologist at the University of Cambridge, Moorfields Eye Hospital and the UCL Institute of Ophthalmology
“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.”

This is a huge win for the mito community, and [the The Lily Foundation are] proud to have been a key stakeholder throughout the NICE submission process.
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.

Katie Waller, Head of Patient Programmes at The Lily Foundation

Mitochondrial disease occurs when the mitochondria, small structures inside our cells responsible for generating more than 90% of the body’s energy, do not function properly. LHON is one of the most common types of mitochondrial disease, primarily affecting the optic nerve and retina. Early symptoms include blurred central vision and loss of colour vision. While typically painless, the disease progresses to severe vision loss and eventual blindness.

Idebenone is an oral medication, taken three times a day, that works by supporting mitochondrial function in the retina and optic nerve. Potentially slowing or reducing damage to vision by helping to improve energy production in the cells of both the retina and optic nerve.

According to The Lily Foundation, every year, around one baby in 5000 is born with mitochondrial DNA mutations that can cause the disease. There is currently no cure. However, progress has been made in mitochondrial donation IVF, which prevents the transfer of the disease to offspring.