ALS

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive loss of motor neurons. An international team has discovered evidence that ALS may have an autoimmune component, meaning that the immune system mistakenly attacks healthy cells, a hypothesis that had been considered by the scientific community. The study shows that inflammatory immune cells—called CD4+ T cells—attack certain proteins that are part of the nervous system in people with ALS. ‘These findings highlight the potential of therapeutic strategies aimed at improving regulatory T cells,’ the authors note in the research, published in Nature.

Researchers in the United States have used stem cells created from patients with a very rare type of ALS, more prevalent in Brazil, to target a key gene in the stress response and reverse the damage suffered by motor neurons in the laboratory. They believe it is "a promising proof-of-concept for future therapeutic strategies" and "could help lay the foundation for genetically informed clinical trials".

In a paper published in Molecular Cell, a team of researchers led by the Spanish National Cancer Research Centre (CNIO) provides the first evidence that a possible cause of the hereditary type of ALS - familial ALS - is the accumulation in motor neurons of 'junk proteins', proteins with no function that accumulate unduly and prevent the cell from functioning properly. In addition, the research describes a new causal factor in the ageing process: nucleolar stress, which encompasses alterations in organelles called nucleoli. 

The European Medicines Agency (EMA) has recommended granting marketing authorisation in the European Union for a new therapy for the treatment of adult patients with amyotrophic lateral sclerosis (ALS), a rare and frequently fatal disease that causes muscle weakness and leads to paralysis. Qalsody (tofersen) is indicated for the treatment of adults with ALS who have a mutation in the SOD1 gene. There is currently only one treatment for ALS authorised in the EU (riluzole).

A research team in Japan has published a small clinical trial in 20 people with amyotrophic lateral sclerosis (ALS) of a drug called ropinirole, which is commonly used in patients with Parkinson's disease. The authors, whose study is published in Cell Stem Cell, say the treatment is safe and slowed the progression of ALS - an incurable neurodegenerative disease - by an average of 27.9 weeks.

The New England Journal of Medicine reports the publication of data from a clinical trial studying the drug Tofersen against a form of Amyotrophic Lateral Sclerosis (ALS) caused by mutations in the SOD1 gene, which accounts for 2% of sporadic ALS. Six months after treatment, some biomarkers of neuronal damage improved, but not the clinical condition of the patients. In an extension of the study, with no placebo group, a slowing of functional loss was observed, although the researchers acknowledge that there are limitations in interpreting this result.