New drug slows or reverses progress of motor neurone disease in landmark trial

A “promising” new drug has been shown to slow down or even reverse the impact of motor neurone disease (MND) in a what could be a significant turning point for patients, scientists say.

Findings of a new study into tofersen showed that some participants reported better mobility and lung function after a year of treatment.

Dame Pamela Shaw, a professor of neurology at the University of Sheffield who led the UK part of the international study, says the trial is like nothing she's come across before.

Having taken part in 25 clinical MND trials, she says this was the first in which patients have reported an improvement in their motor functions.

“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’," she said.

“For me this is an important treatment milestone.”

Scientists say the findings, published in the New England Journal of Medicine, are “remarkable” for a disease characterised by “relentless decline”. Around 5,000 people in the UK have MND, with 2% developing it due to a faulty SOD1 gene, which sees “misfolded” version of the protein giving rise to the condition.

While the tofersen trial only applies to this small portion of patients, the researchers said their work will “change the future of MND trials for patients”.

The latest study is a global phase III trial, meaning researchers have been examining the drug's safety and efficacy.

It was funded by biotechnology company Biogen, involved 108 patients with faulty SOD1 genes from 32 sites in ten countries.

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All participants were assessed at 28 weeks to measure motor function across four areas: swallowing and speaking, breathing, fine motor skills, and motor skills. Results showed the drug did not improve motor control and muscle strength after six months but patients reported better patient mobility and lung function after 12 months.

Samples of patients' spinal fluid also showed lower levels of proteins associated with MND at six months.

Tofersen side effects included temporary mild headache, and some discomfort from having a lumbar puncture – a procedure where a needle is inserted in the lower part of the spinal cord to administer a drug.

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Les Wood, 68, from Thorne, South Yorkshire, was diagnosed with MND 10 years ago and first took part in the Phase 3 trial in 2016.

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. “It not only gives us hope, it gives you hope for the future for lots of people, my own family as well, because motor neurone disease is familial in my case, I think well, maybe my own family will benefit from this in time to come.”

A co-investigator in the trial, director of the Sean M Healey & AMG Center for ALS at Massachusetts General Hospital, said the findings are a "promising development".

Dr Brian Dickie, director of research at the MND Association, said: “These latest results provide mounting confidence that tofersen is having both a biological and a beneficial clinical effect in people living with SOD1 MND. “They 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.”

What is motor neurone disease and what are the warning signs?

MND, also known as amyotrophic lateral sclerosis (ALS), is a condition that affects the brain and nerves.

It is a progressive disease, meaning it gets worse over time, and can eventually impair a patient's ability to walk, talk, eat, breathe, and use their arms and hands.

There's no cure for MND, and it can significantly shorten life expectancy, but there are treatments to help reduce the impact it has on a person's daily life.

Adults of all ages can have MND, but it mainly affects people in their 60s and 70s.

Early symptoms can include

- Weakness in your ankle or leg – you might trip, or find it harder to climb stairs

- Slurred speech, which may develop into difficulty swallowing some foods

- A weak grip – you might drop things, or find it hard to open jars or do up button

- Muscle cramps and twitches

- Weight loss – your arms or leg muscles may have become thinner over time

- Difficulty stopping yourself from crying or laughing in inappropriate situations

Source: NHS