My loved ones were so relieved when I started the treatment, not just for me but because they know that if it happens to any of them, then at least there is this medicine that can potentially help them, too. As Olivia said to me: “This treatment, it gives you hope, and it gives us a chance of a cure”.
I can’t yet bear telling her the latest, devastating news that tofersen is unlikely to ever be available on the NHS. But I am already outliving the odds and this July will be my five-year post-diagnosis anniversary. Tofersen has given me the courage to think longer term.
I will turn 50 in October 2025 and am daring to plan a girls’ trip with my friends and a holiday with Olivia to celebrate the milestone that I never imagined I would see. I feel in a privileged and lucky position to have the drug, and I pray it’s giving the research community the time to find more answers and a cure for this evil disease. MND has taken my loved ones but it’s not going to take my hope for the future.
As told to Susanna Galton
What is tofersen?
Tofersen is a drug is targeted to treat people living with MND who have alterations in the SOD1 gene – approximately 2 per cent of the MND population (estimated at
up to 100 people in the UK). The drug, administered through a lumbar puncture, is specifically designed to treat familial MND caused by mutations in the SOD1 gene. It uses an approach known as “antisense”, in which the drug directly interferes with the faulty instructions for making SOD1 protein, thus stopping the production of the disease-causing substance.
Why won’t the drug be available on the NHS?
A decision taken by Nice means it is unlikely the treatment will be accessible to patients through the NHS. Nice has decided to appraise tofersen through the single technology appraisal (STA) route, rather than the highly specialised technologies (HST) route.
Ordinarily, products targeted at rare diseases (affecting less than 1 in 50,000 people in England) are assessed through the HST route. However, Nice will conduct a standard appraisal, because it does not view SOD1 MND as a clinically distinct disease.
As such, it is highly unlikely that tofersen will receive a positive decision if evaluated through the standard route, meaning that it will not become accessible to patients through the NHS.
A Nice spokesperson said: “Our topic selection oversight panel carefully considered whether to route the technology [i.e. send it down the pathway] to the HST rather than the STA programme. But this therapy does not meet the criteria for the HST programme.
“Nice’s independent committee hasn’t yet met to consider the evidence for tofersen now that it has been routed for evaluation and therefore no decision on whether the therapy will be made available to eligible patients on the NHS in England and Wales has been made.”
For more information about MND and the MND Association please visit www.mndassociation.org
Sarah Carter is a health and wellness expert residing in the UK. With a background in healthcare, she offers evidence-based advice on fitness, nutrition, and mental well-being, promoting healthier living for readers.
