Lto SLAan acronym for amyotrophic lateral sclerosis, is one of the neurodegenerative diseases more complex and difficult to study. Unfortunately today there are no cures but for a particular form, the one in which there is a mutation in the SOD1 gene, something begins to move. The results of a recent clinical study recently published by the journal New England Journal of Medicine, they say we’re on the right track: using Tofersen, a molecule capable of “stopping” the abnormal activity of SOD1, has been shown to be useful in reducing the amount of “toxic” proteins that cause disease. An important result that, while not representing the cure for ALS, opens up interesting perspectives in the control of the disease and its evolution.
Sla: an abbreviation, different causes
ALS is one neurodegenerative disease characterized by progressive loss of motor neuron function, the nerve cells of the brain and spinal cord that allow the movements of the voluntary muscles. To date it is estimated that they are about 6 thousand people in Italy alone are affected by this disease. At the basis of the development of the disease there are several causes, many still remain to be identified. One of them is the presence of the mutation in the SOD1 gene, responsible for 2% of all cases of ALS. It is a particular gene involved in the defense mechanisms against oxidizing agents. When this does not work, the motor neurons suffer such damage to generate the disease.
Delete Sod1
Starting from this assumption, the research focused on the development of possible molecules capable of neutralize the abnormal activity of SOD1. One of these is tofersen, a drug that falls into the category of antisense oligonucleotides, molecules that “sequester” the information necessary for the production of the protein associated with the SOD1 gene. In this way, by blocking the action of the mutated gene, the hope is that of eliminate the abnormal protein cause of damage to motor neurons.
You can slow down the disease
The recently published study evaluated the action of the drug on 108 people with ALS SOD1 from 10 countries: two thirds were administered the drug in 8 injections, the others placebo, the analysis evaluated various parameters associated with the pathology after 24 weeks of treatment. At the end, on a voluntary basis, all participants (even those who received the placebo) were able to continue receiving the therapy. The primary objective of the study was to verify the Functional Rating Scale – Revised, that is the motor ability. Unfortunately, after 24 weeks, there was no significant difference between those who took the drug and those who took the placebo. The secondary objective was the evaluation of the “markers” of the disease, ie the presence of both SOD1 and neurofilaments associated with the disease. Tofersen was able to significantly reduce the presence of these proteins.
Improve motor function
Good news to which is added that relating to the “ad interim” analysis carried out six months after the inclusion of all participants to receive the drug. In this case, one was found in the group that started the treatment immediately better motor function – statistically significant – compared to those who started late administration. Finally, a year into the study, some participants showed a stabilization of strength and muscle controlan extraordinary result for a disease characterized by a progressive loss of muscle tone. Slow down neurodegeneration it is something never before achieved in ALS. The next few months will be decisive for understanding the goodness of this approach.
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