Experimental drug shows signs of slowing motor neuron disease

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An experimental drug for motor neuron disease (MND) has shown signs of slowing the progress of the devastating disease in a landmark trial.

The results provide new hope after a phase three trial of the same drug failed to make a significant difference in patient outcomes after six months of treatment.

The latest results suggest that when patients continued to take Biogen’s drug Tofersen for another six months, they experienced improved mobility and lung function, with some reporting remarkable results.

One man, who was in a wheelchair when he enrolled in the trial, was able to walk again without a cane, and another patient described being able to write his own Christmas cards again after receiving the gene-targeted treatment.

Dame Pamela Shaw, professor of neurology at the University of Sheffield and co-author of the study, said: “I think this is really significant. I have done over 25 trials and have never heard patients report stabilization or improvement before.”

The drug works by targeting a genetic mutation, SOD1, which is the known cause of 2% of MND patients, but experts said the groundbreaking results could pave the way for a new class of gene-targeted treatments for a much larger cohort. wider number of patients.

Les Wood, 68, from Thorne, South Yorkshire, was diagnosed with MND 10 years ago and was one of the first to take part in the trial in 2016. After the first 12 months of taking Tofersen, Wood was well enough to to return to enjoy vacations in Spain with his wife, Val.

“I was actually able to walk around the house without canes, was able to get off some of my painkillers, and felt much better about myself,” he said. “MND is a progressive disease, so although my symptoms have continued to worsen, I wouldn’t be without the drug and the difference I know it has made to my quality of life.”

MND, also known as amyotrophic lateral sclerosis, affects 5,000 people in the UK and so far the picture has been bleak. The fatal disease progressively destroys nerve cells in the brain and spinal cord, severing communication with muscles that then begin to weaken, stiffen and wear out.

Few survive beyond five years and current treatments only marginally increase life expectancy and do not slow the loss of a patient’s ability to walk, talk, eat and breathe.

In the initial phase, 108 MND patients with SOD1 mutations were recruited and two-thirds received monthly doses of the drug via lumbar puncture, and the rest received a placebo.

Tofersen is a so-called antisense oligonucleotide, a DNA-based drug that works by blocking the production of a toxic version of the SOD1 protein caused by the genetic defect.

After six months, the drug had significantly reduced levels of the defective protein, but there was no clinically significant difference in the patient’s mobility or lung function. However, the results were encouraging enough to extend the trial, with those who had been on a placebo treatment switched to the drug at that time.

Six months after the extension, a significant difference in motor and lung function was revealed between those who started the drug early and late, according to results published in the New England Journal of Medicine. The researchers believe that the delay simply reflects the time it takes for the motor neurons to heal and for the drug to make a clinical difference.

The drug is not considered a cure, although it could have a more powerful effect if given earlier in the course of the disease, but even slowing the progress of MND is considered a breakthrough.

The FDA is considering an application to license the drug and it is being offered to UK patients under an early access programme.

“What makes MND so scary is the speed of change,” Shaw said. “Often, patients can’t understand one aspect of the disability before they have to deal with something new. If we can slow it down, it makes it a lot more livable, a lot less scary.”

Dr Brian Dickie, Director of Research at the MND Association, said: “These latest results provide increasing confidence that Tofersen is having a beneficial clinical and biological effect in people living with SOD1 MND.

“They also provide important ‘proof of concept’ that similar gene therapy-based approaches may be useful for other forms of the disease.”

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