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

Sheffield BRC > News > News stories > New investigational drug shows potential in targeting hereditary cause of motor neuron disease

Results from a phase 1-2 study published in the New England Journal of Medicine, have shown the new investigational drug tofersen has the potential to reduce the levels of a toxic cell protein, triggered by a faulty gene called SOD1, which causes the progression of the debilitating motor neuron disease.

Scientists from the University of Sheffield’s Institute for Translational Neuroscience (SITraN) worked with the Sheffield Teaching Hospitals NHS Foundation Trust on the study at the National Institute for Health Research (NIHR) Sheffield Biomedical Research Centre.

The NIHR Sheffield BRC was the only site in the UK to participate in this exciting international clinical trial which evaluated the safety and efficacy of the investigational drug developed for SOD1 MND.

About 5,000 people in the UK have MND, or amyotrophic lateral sclerosis (ALS), as is it known in the US. It is a disorder that affects the motor neurons in the brain and spinal cord that form the connection between the nervous system and muscles to enable movement of the body.

The messages from these nerves gradually stop reaching the muscles, leading them to weaken, stiffen and eventually waste. The progressive disease affects a patient’s ability to walk, talk, use their arms and hands, eat and breathe.

SOD1 is the known cause for triggering MND in two per cent of all patients, and up to 20% of patients who have a family history of the disease. Tofersen is an antisense oligonucleotide, a drug designed to target the SOD1 messenger RNA (the blueprint for SOD1 protein production) to reduce production of the toxic SOD1 protein.

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