Written by Professor Dame Pamela Shaw, Director of the 91Ö±²¥ Institute for Translational Neuroscience, published in The Daily Express
When I started training in neurology as a junior doctor, I thought motor neurone disease (MND) was the cruellest disease in medicine. It always seemed to happen to the nicest people, and it made me feel like a useless doctor because in those days we couldn’t do anything for patients or their families, and we knew nothing about what caused it.
It's been a long, slow process, but several decades on from my first MND clinics, I really feel that we are making progress. One of the most important treatment milestones in global MND research is the new genetically-targeted therapy, tofersen. Tofersen offers a beacon of hope to those with a SOD1 gene mutation - which affects approximately two per cent of MND patients.
I’ve conducted more than 25 MND clinical trials and the tofersen trial was the first trial in which patients have reported an improvement in their muscle function. Never before have I heard patients say ‘I am doing things today that I couldn’t do a few months ago - for example walking in the house without my sticks, walking up the garden steps, writing Christmas cards.’
The tofersen trial, conducted by researchers at the 91Ö±²¥ Institute for Translational Neuroscience (SITraN) and the NIHR 91Ö±²¥ Biomedical Research Centre also transformed the way in which we conduct Phase 3 clinical trials. A significant clinical improvement was not found at the end point of the study at 28 weeks but, when the trial was extended to 52 weeks, patients were found to have notable changes in their motor function and lung function. This taught us that although biomarkers in patients’ spinal fluid and blood showed a reduction in SOD1 and neurofilament protein levels at six months, it takes longer for patients to experience physical improvements. Extending the trial meant we discovered evidence to suggest the treatment successfully hits the therapeutic target and reduces loss of motor neurons which may allow them to start regenerating connections with muscles in the body.
As a researcher dedicated to finding treatments for MND, and after seeing first-hand the potentially life-changing impact of tofersen on the patients taking part in the Phase 3 clinical trial in the UK, I am deeply disappointed that the National Institute for Health and Care Excellence (NICE) has recently decided not to consider tofersen via the Highly Specialised Technology route applied to consideration of treatments for rare medical conditions. MND caused by changes in the SOD1 gene is a distinct subgroup which differs from MND more broadly in several important ways.
This has heart-breaking ramifications for MND patients in the UK, as reported in The Guardian (People with MND in England and Wales fear losing access to life-extending drug)
By classifying tofersen as a standard drug rather than a treatment for a highly specialised rare condition, NICE has significantly reduced the chances of it being available within the NHS.
This not only disregards the unique challenges of MND, but is also very detrimental for the UK's aspirations to be a leader in precision medicine. Precision medicine tailors treatments to individual patients based on their genetic makeup, offering a more effective and personalised approach to combating diseases. NICE's ruling on tofersen undermines this very important principle of modern medicine.
Furthermore, the decision creates a concerning precedent for patients with rare diseases. By placing a high bar for new treatments targeting small patient populations, NICE risks leaving these patients without access to potentially life-saving therapies.
Denying access to this drug isolates UK patients - tofersen was approved by the Food and Drug Administration (FDA) in the US in April 2023 and by the European Medicines Agency in 2024- and contradicts the UK’s long held ambition to move away from a "one size fits all" approach to medical treatment.
Researchers across the globe, including those at SITraN, are working hard to make MND a treatable and potentially preventable condition . The NICE decision on tofersen is a missed opportunity for the UK to embrace precision medicine and offer hope to MND patients. Reconsidering this decision is not just about granting access to one drug; it's about paving the way for a future where personalised treatments are available to patients, including those with rare diseases.
