A drug that can dramatically slow the progression of motor neurone disease (MND) will not be available on the NHS because there are not enough people who can benefit from it.
Studies show that tofersen is very effective in combating the deadly muscle-wasting disease, but only in those patients who carry a specific genetic mutation, called SOD1.
This means that only around 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 halt 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 it believes the NHS spending watchdog would reject it as the patient pool is too 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 benefited from the drug tofersen.
MND causes muscles to weaken and, in severe cases, stop working altogether. The first signs are usually slurred speech and muscle cramps. For those most affected, the lungs and throat eventually stop functioning, resulting in death.
One MND patient who has benefited from tofersen is Tim Wake, 45, from Surrey, who was diagnosed in 2020. His mother, grandmother and uncle died from the disease.
“I was hoping he would have been lost to my side of the family, but when I got the news it was devastating,” the COO says.
‘My symptoms appeared very quickly. In July I was very active, running and playing football with the children, until in October I was in a wheelchair.’
After being identified as a carrier of the SOD1 gene, Mr Wake was offered the opportunity to participate in a clinical trial, in which he was given monthly spinal injections of tofersen. The drug had an instant effect on him.
Former rugby league star and activist Rob Burrow died earlier this year at the age of 41 due to MND.
“I haven’t made any progress in four years, which is amazing,” he said. ‘Without him, I would almost certainly have died, judging by what happened to my mother. I’m watching the kids grow up, I’ve maintained my career and I’ve lived a pretty normal life.’
Earlier this year, former rugby league star and activist Rob Burrow died at the age of 41 due to MND. He was diagnosed in December 2019 and quickly left him unable to move.
Until now, there were no pharmacological treatments capable of stopping NMD. However, in 2022, a major study on tofersen found that it is life-changing for two percent of MND patients.
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 mutates, the body produces toxic proteins that damage muscles. This innovative drug, known as a gene silencer, effectively silences the defective gene so that less SOD1 protein is produced.
The researchers found that monthly spinal injections caused patients to report significantly better mobility and lung function after 12 months.
Burrow lived with the disease for five years, having been diagnosed in late 2019.
‘We’ve never had anything like this. “It’s really extraordinary,” said Professor Ammar Al-Chalabi, a neurologist at King’s College London. “Trials show that when it is given early to patients, 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 for it to be available on the NHS.
Pharmaceutical giant Biogen said it does not believe it would be approved if it goes before NICE, saying the watchdog will assess tofersen only as a treatment for MND as a whole.
Given that it benefits only two per cent of the total number of MND patients, Biogen maintains that it is unlikely to be considered a profitable drug, the crucial barometer for a drug to gain NHS funding.
This disagreement also means that British patients currently receiving tofersen injections as part of the trial will no longer be able to access them, putting their lives again at risk.
NICE has been contacted for comment.