A breakthrough drug dramatically slows the progression of motor neuron death. So why on earth won’t the NHS pay for it?

A drug that can dramatically slow the progression of motor neurone disease (MND) will not be made available on the NHS because not enough people can benefit from it.

Studies show that tofersen is highly effective in combating the deadly muscle wasting disease – but only in patients who carry a specific gene mutation called SOD1.

This means that only around 100 of the 5,000 ALS patients in Britain could benefit from it. Experts predict that treating these patients at £100,000 a year could delay the disease for several years – perhaps even decades. However, Biogen, the US developer, has decided not to apply for approval for tofersen in Britain as they believe the NHS spending watchdog would reject it because the patient group is so small.

Campaigners are now calling on the watchdog, the National Institute for Health and Care Excellence (NICE), to commit to approving the treatment.

Tim Wake, 45, was diagnosed with ALS in 2020 and has benefited from the drug tofersen

MND causes the muscles to weaken and – in severe cases – stop working altogether. The first signs are often slurred speech and muscle cramps. In those most affected, the lungs and throat eventually stop working, leading to death.

One ALS patient who has benefited from tofersen is Tim Wake, 45, from Surrey, who was diagnosed in 2020. His mother, grandmother and uncle all died from the condition.

“I had hoped it would have missed my side of the family, but when I got the news it was devastating,” the operations manager said.

‘My complaints came up very quickly. In July I was very active: I ran and played football with the children, until I was in a wheelchair in October.’

After it was identified that he had the SOD1 gene, Mr Wake was given the opportunity to participate in a clinical trial, receiving monthly spinal injections of tofersen. The medicine had an immediate effect on him.

Former rugby league star and campaigner Rob Burrow died earlier this year aged 41 due to ALS

“I haven’t made any progress in four years, which is staggering,” he said. ‘Without this, I would almost certainly have died, based on what happened to my mother. I see the children growing up, I have continued my career and led a fairly normal life.’

Earlier this year, former rugby league star and campaigner Rob Burrow died aged 41 due to ALS. He was diagnosed in December 2019, which quickly left him unable to move.

Until now, there have been no drug treatments that can slow down MND. However, a large-scale 2022 study of tofersen found that it is life-changing for two percent of ALS patients.

The study, published in the New England Journal, involved 108 patients from 32 sites in ten countries, all of whom had the SOD1 gene mutation.

When the gene is mutated, the body produces toxic proteins that damage the muscles. The innovative drug – known as a gene silencer – effectively silences the faulty gene so that less SOD1 protein is produced.

Researchers found that the monthly spinal injections resulted in patients reporting significantly better mobility and lung function after 12 months.

Burrow lived with the disease for five years after being diagnosed in late 2019

‘We’ve never had anything like this before. It is truly remarkable,” said Professor Ammar Al-Chalabi, a neurologist at King’s College London. ‘The studies show that when given early to patients, it stops progression and in some cases even improves their condition.’

But despite receiving approval from EU health officials earlier this year, there are no plans to make it available on the NHS.

Pharmaceutical giant Biogen said it does not believe it would be approved if submitted to NICE, claiming the watchdog will only review tofersen as a treatment for ALS as a whole.

Because it only benefits two percent of total ALS patients, Biogen says it is unlikely to be seen as a cost-effective drug – the crucial barometer for an NHS-funded drug.

This disagreement also means that British patients currently taking tofersen injections as part of the trial will no longer have access to them, putting their lives at risk again.

NICE was contacted for comment.