Tofersen: ‘Truly remarkable’ drug slows down motor neurone disease, researchers find

·3-min read
Some patients reported better mobility and lung function a year after taking the drug tofersen (PA)
Some patients reported better mobility and lung function a year after taking the drug tofersen (PA)

A “promising” new drug has been shown to slow and even reverse some of the devastating decline caused by motor-neurone disease (MND) in some patients, say researchers.

Some patients with a faulty SOD1 gene, who took part in a clinical trial, reported better mobility and lung function a year after taking the drug tofersen.

Scientists said the findings, published in the New England Journal of Medicine, are “remarkable” for a disease characterised by “relentless decline”, and represented a “moment of hope”.

Dame Pamela Shaw, professor of neurology and director of Sheffield Institute for Translational Neuroscience (SITraN) at the University of Sheffield, said this was the first MND trial she had conducted in which patients reported an improvement in motor function.

However, the drug is not a cure.

“I have conducted more than 25 MND clinical trials and the tofersen trial is the first trial in which patients have reported an improvement in their motor function,” she said.

“Never before have I heard patients say, ‘I am doing things today that I couldn’t do a few months ago – walking in the house without my sticks, walking up the garden steps, writing Christmas cards’.

“For me this is an important treatment milestone.”

MND, also known as ALS, is a condition that affects the brain and nerves, affecting a patient’s ability to walk, talk, use their arms and hands, eat and breathe.

Around 5,000 people in the UK have MND, with 2% developing the condition due to a faulty SOD1 gene.

The phase III trial, funded by biotechnology company Biogen, involved 108 patients from 32 sites in 10 countries, all of whom had the SOD1 gene.

While MND patients with SOD1 mutations are relatively rare, the researchers said their work will “change the future of MND trials for patients”.

Professor Chris McDermott, co-author of the study, said: “Although tofersen is a treatment for only 2% of those living with MND, we have learned much in doing this clinical trial that will help us do smarter and faster clinical trials in the future.”

In the trial, two-thirds of the participants were randomly assigned to receive eight doses of tofersen over a 24-week period, while a third received eight doses of a placebo.

All participants were assessed at 28 weeks to measure motor function.

While results showed that the drug did not improve motor control and muscle strength after six months, patients reported better patient mobility and lung function after 12 months.

Les Wood, 68, from Thorne, South Yorkshire, was diagnosed with MND 10 years ago and took part in the trial.

He said: “After 12 months of taking the drug I could actually walk in the house without sticks, I was able to come off some of my painkillers and I felt a lot better in myself.

“MND is a progressive disease so although my symptoms have continued to worsen, I would not be without the drug and the difference I know it has made to my quality of life.”

Dr Brian Dickie, director of research at the MND Association, said the results may also “provide important ‘proof of concept’ that similar gene therapy-based approaches may be helpful for other forms of the disease”.

“We are closely following the recent news that tofersen will be reviewed by the US drug regulatory authorities and are in contact with Biogen to discuss what the regulatory approval process will look like elsewhere,” he said.