New drug shows promise in slowing the progression of MND

Scientists believe a new genetically targeted therapy to treat motor neuron disease could be a turning point in care for some patients with MND.

Researchers investigating the effectiveness of the drug tofersen on people with an inherited form of motor neuron disease (MND) have found it can slow progression of the disease if taken over a period of 12 months.

A phase three clinical trial of the investigational drug has shown that it can slow and reduce progression of the disease in cases caused by the faulty SOD1 gene. Patients on the trial showed better mobility and lung function after 12 months.

The SOD1 gene is the known cause for triggering MND in 2% of all patients with ALS, and up to 20% of patients who have a family history of the disease. Although the drug is targeted at the 2% of MND cases that have the SOD1 mutation, clinicians and scientists hope that this will be the first step toward a licensed therapy for MND patients.

The trial included 108 MND patients known to have the faulty SOD1 gene. Although a significant clinical improvement was not found at the primary endpoint of the study at 28 weeks, notable changes in patients’ motor function and lung function were reported after the trial was extended to 52 weeks.

Results of the trial suggest that tofersen treatment successfully hits the therapeutic target and reduces loss of motor neurons which may allow them to start regenerating connections with muscles in the body.

The clinical trial was carried out by researchers at the University of Sheffield’s Institute for Translational Neuroscience (SITraN) and was funded by biotechnology company Biogen Inc.

Professor Dame Pamela Shaw, Professor of Neurology and Director of SITraN at the University of Sheffield, said: “Patients with SOD1 mutations are relatively rare, but this trial is going to change the future of MND trials for patients. 

“Not only can we look at other genes which also cause MND, but we now have a biomarker which we can measure to see if a treatment is working. This is going to make trials much more efficient. In future we may be able to tell in three to six months if an experimental therapy is having a positive effect.”

Dr Jane Haley MBE, Director of Research for MND Scotland, said: “This clinical trial, funded by Biogen, is very encouraging for MND research generally. 

“The finding that tofersen can help people who have SOD1 related MND is a very positive step forward and demonstrates that momentum is building towards new potential MND therapies. 

“We are working hard to expand access to clinical trials for people with MND and we are enormously proud to be the key charity funder of the UK-wide MND-SMART trial, which is run by the University of Edinburgh. We are hopeful that the increased availability of clinical trials for people with MND will result in new treatments for other forms of MND in the future.”

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