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New treatment for motor neurone disease shows promise in early trials

Published: 13 July 2020

A new drug targeting the genetic cause of a rare form of motor neurone disease (MND) has shown encouraging results in early research supported by the NIHR.

The phase 1-2 study, published in the New England Journal of Medicine, has shown that the  new investigational drug tofersen is safe and well tolerated in people with a genetic form of MND.

MND is a disorder that affects the nerves - or motor neurons - in the brain and spinal cord that form the connection between the nervous system and muscles, enabling movement of the body. In people with MND, the messages from these nerves gradually stop reaching the muscles, leading them to weaken, stiffen and eventually waste. 

About 5,000 people in the UK have MND. The progressive disease affects a patient’s ability to walk, talk, use their arms and hands, eat and breathe.

Superoxide dismutase 1, known as SOD1, is the first gene found to cause MND. Mutations in this gene in people with MND cause a normal enzyme to become toxic to nerve cells and cause progression of the disease. 

A faulty SOD1 gene is the known cause in 2% of all MND patients, and up to 20% of patients who have a family history of the disease.

This new trial, sponsored by biotechnology company Biogen Inc, showed that tofersen has the potential to reduce the levels of the toxic protein generated by the faulty SOD1 gene. Reducing levels of the protein will reduce damage in the nerve cells and help to slow the progression of symptoms.

The study was supported by the NIHR Sheffield Biomedical Research Centre, a partnership between the University of Sheffield’s Institute for Translational Neuroscience (SITraN) and the Sheffield Teaching Hospitals NHS Foundation Trust, which was the only site in the UK to participate in this major international clinical trial.

Professor Dame Pamela Shaw, Director of SITraN, European Chief Investigator on the trial and Director of the NIHR Sheffield Biomedical Research Centre, said: “The rise of genetic screening in our clinic means that we can now identify the different genetic subtypes of MND, which is helping to enhance the research effort.

“It has been a real privilege to participate in this trial of the investigational drug tofersen here in Sheffield, and our patients have shown huge commitment in taking part, so it’s a step forward that the published results warrant additional study in a larger patient group.”

The next phase of the trial will continue to further explore the safety and efficacy of the investigational drug.


More information

New investigational drug shows potential in targeting hereditary cause of motor neuron disease

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