A drug that can dramatically delay the progress 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 at combating the deadly muscle-wasting disease – but only in those patients who carry a specific gene mutation, called SOD1.
This means only about 100 of the 5,000 MND patients in the UK could benefit from it. Experts predict that, for these patients, the £100,000-a-year treatment could stall their disease for several years – perhaps even decades. However, Biogen, its US developer, has decided not to seek approval for tofersen in the UK because they believe the NHS spending watchdog would reject it as 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 MND in 2020, and has benefitted from the tofersen drug
MND causes the muscles to weaken and – in severe cases – stop working completely. The first signs are often slurred speech and muscle cramps. For those worst affected, the lungs and throat eventually stop working, leading to death.
One MND sufferer 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 had missed my side of the family, but when I got the news it was devastating,’ says the operations manager.
‘My symptoms came on very quickly. In July I was very active, running and playing football with the kids, to being in a wheelchair by October.’
Having been identified as having the SOD1 gene, Mr Wake was offered the chance to take part in a clinical trial, where he was given monthly spinal injections of tofersen. The drug had an instant impact on him.
Former rugby league star and campaigner Rob Burrow earlier this year died at the age of 41 due to MND
‘I have not progressed in four years, which is staggering,’ he said. ‘Without it I would almost certainly have passed away, judging from what happened with my mother. I am getting to see the kids grow up, I have sustained my career and lived a fairly normal life.’
Earlier this year, former rugby league star and campaigner Rob Burrow died at the age of 41 due to MND. He had been diagnosed in December 2019, and it swiftly left him unable to move.
Until now there have been no drug treatments capable of slowing MND. However, in 2022 a major study of tofersen found that, for two per cent of MND patients, it is life-changing.
The research, 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 which damage the muscles. The innovative medicine – known as a gene silencer – effectively mutes the defective gene so less SOD1 protein is produced.
Researchers found that the monthly spinal injections led to patients reporting significantly better mobility and lung function after 12 months.
Burrow lived with the disease for five years, having been diagnosed in late 2019
‘We have never had anything like this. It is truly remarkable,’ said Professor Ammar Al-Chalabi, a neurologist at King’s College London. ‘The trials show that when given to patients early it stops progression, and in some even improves their condition.’
But despite gaining 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 put before NICE, claiming the watchdog will assess tofersen only as a treatment for MND as a whole.
Since it benefits just two per cent of the total number of MND patients, Biogen argues it is unlikely to be viewed as a cost-effective medicine – the crucial barometer for a drug getting NHS funding.
This disagreement also means that British patients currently taking tofersen injections as part of the trial will no longer be able to access them, putting their lives at risk again.
NICE was approached for comment.