Sight-Saving Treatment Now Available on NHS for Rare Genetic Disease

In a significant development, a treatment for the debilitating genetic disease Leber Hereditary Optic Neuropathy (LHON) is now available on the National Health Service (NHS) in England. LHON is a rare inherited condition that primarily affects the cells of the optic nerve, leading to sudden and severe vision loss.

The National Institute for Health and Care Excellence (NICE) has approved the use of the drug idebenone, sold under the brand name Raxone, as a treatment option for LHON patients over the age of 12. Evidence shows that idebenone can help improve eyesight and boost the quality of life for those affected by this life-changing condition.

Experts have welcomed the decision, stating that it will bring "great relief" to the estimated 2,000 LHON patients in England. The treatment works by restoring the cell's ability to produce energy, allowing inactive eye cells to function again. While not everyone will benefit, the drug has been shown to be effective in around half of patients.

One patient, Lily, who was diagnosed with LHON in 2022, has already experienced the transformative effects of idebenone. After receiving the treatment at Moorfields Eye Hospital, she has regained some of her sight and peripheral vision, allowing her to regain her independence and continue her studies. Lily's story highlights the profound impact this treatment can have on the lives of LHON patients.

The approval of idebenone marks the first time NICE has approved a treatment for any mitochondrial condition, a group of genetic disorders that affect how cells produce energy. This landmark decision brings hope to the LHON community in England, providing a much-needed solution to a debilitating and life-changing condition.