MND treatment offers hope for further research on disease variants
22 Sep 2022
Treatment administered for a specific variant of motor-neurone disease (MND) has reportedly been effective in delaying the physical decline in patients, with some recording degrees of reversal of symptoms.
The results of the trials on more than 100 people with a type of MND associated with superoxide dismutase 1 (SOD1) protein was published in the New England Journal of Medicine.
Scientists reported that administering the drug tofersen via monthly lumbar punctures recorded recipients with lowered levels of the protein after six months. After a further half year, the rate of the disease appeared to have slowed and in some cases demonstrated a degree of reversal in symptoms.
The results have been welcomed by bodies including the MND Association as offering positive encouragement for treatment of the disease, also called amyotrophic-lateral sclerosis (ALS) after its most common version.
In a statement on its blog, the organisation stated: “This new data gives us hope that effective therapies for MND are now a reality and that with more investment, more research and continued interest from pharmaceutical companies, additional therapies that will benefit all people with MND are closer than ever before.
“This is indeed the case as a number of genetic therapies are in development and in clinical trials. None of this progress is possible without the continued support of the MND community, the dedication and commitment of researchers and the generosity and altruism of people living with MND, their families and carers.”
However the evidence applies only to the SOD1-linked variant. This affects just one in 50 MND patients although it is estimated to account for around a much larger proportion of specifically familial-related MND cases.
MND causes the gradual loss of motor neurones controlling muscles, has no known cure and an average survival period of as little as two years. Administering tofersen countered the effects of the SOD-1 variant by gene silencing; muting messenger RNA within the patient’s genetic code that is responsible for producing a toxic form of the protein.
The international research published in the paper Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS was funded by pharmaceutical company Biogen.
