New results from an international study show that patients who received monthly injections of the drug tofersen reported better mobility and lung function after one year of treatment. A patient who was in a wheelchair at the start of the trial can now walk without crutches. Professor Dame Pamela Shaw, Professor of Neurology at the University of Sheffield, who led the UK part of the study, said it was the first time in more than 25 trials in MND that she had seen an improvement in muscle function. “I’ve never heard patients say, ‘I’m doing things today that I couldn’t do a few months ago – walking around the house without walking sticks, walking up the garden steps, writing Christmas cards,’” he said. “For me this is a major healing milestone.” Motor neurone disease affects around 5,000 people in the UK. Astrophysicist Professor Stephen Hawking had the condition for many decades. For reasons that are not understood, it causes the nerves that take signals from the brain to the muscles to stop working. This leads to muscle weakness and paralysis that worsens over time and is ultimately fatal. There are about 30 genes known to cause or predispose people to the disease. A mutation in one of these, called SOD1, is the trigger in about 2% of all cases. But the new drug, made by Biogen, stops the faulty SOD1 gene from producing a protein that causes nerve damage. A previous trial suggested six months of spinal fluid injections reduced levels of SOD1 protein along with other underlying disease biomarkers. Newly updated results in 108 patients, published in the New England Journal of Medicine, show the biological effect translates into real clinical benefit after one year of continued treatment. In those with slowly progressive MND, muscle strength actually improved slightly and disease severity remained “remarkably” stable, Professor Shaw said. In those with faster disease progression before treatment, the decline in muscle function slowed. Les Wood, 68, from Thorne, South Yorkshire, was diagnosed with MND 10 years ago and first took part in the trial in 2016. She said: “After 12 months on the drug I could actually walk around the house without crutches, I was able to come off some of my painkillers and I felt a lot better about myself. “It gives you hope for the future for a lot of people, as well as my own family, because motor neurone disease is familial in my case. Maybe my family will benefit from this in the future.” Professor Chris McDermott, from the University of Sheffield’s Institute for Translational Neuroscience, and another of the researchers, said: “It has an impact and it’s a change for people living with this disease, but it’s not a cure. “There are patients who don’t seem to progress at all, but there are others, we believe with other mutations, who progress at a slower rate.” Biogen is expected to submit the new results to UK, US and European drug licensing authorities. An ‘early access programme’ has been launched which allows anyone with MND and the SOD1 gene to have the drug for free until it is available on the NHS. Scientists hope they can use the same drug design techniques to target other genes that can cause MND, ushering in an era of personalized medicine. “These principles emerging from this trial are a real source of hope for MND patients as a whole,” said Professor Shaw. “If you are a patient or family dealing with a disease like MND, the pace of science and medicine seems painfully slow. “But this shows that we are in a new era where we can expect real progress – not an overnight miracle cure, but where there is a slowing of disease progression. “It will make the disease much more livable and much less scary.”
