Discovery of the first ALS treatment for patients with specific genetic mutations. They were published today on the New England Journal of Medicine the results of the international study on Tofersen, which demonstrated a slowdown and in some cases even a reversal of the clinical progression of amyotrophic lateral sclerosis (ALS). The treatment is effective in people who carry the mutation in the SOD1 gene. This is an extraordinary clinical result, never previously observed in the treatment of ALS.
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ALS is a neurodegenerative disease and reduces life expectancy, also causing a gradual and progressive motor disability. The positive effect of the drug manifests itself clearly during the first year of treatment and subsequently persists over time.
Professor Adriano Chiò (Director of the Regional Expert Center for ALS of the Molinette hospital of the City of Health of Turin and part of the ‘Rita Levi Montalcini’ Department of Neuroscience of the University of Turin) affirms the extraordinary importance of this result. The Turin Center was the only one in Italy and one of the few in the world to have been directly involved in the conduct of the trial, contributing with the largest number of rapid patients in the world.
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Tofersen is an antisense oligonucleotide (Aso) that acts selectively on messenger RNA, blocking the synthesis of the altered protein. The therapy is administered by lumbar puncture, and this method is very well tolerated. The experimental study involved 108 individuals affected by ALS with mutation in the SOD1 gene divided into patients with rapid and slow progression and had two phases, a first of 6 months and a second extension of the study still in progress. Relevant is the significant reduction of the SOD1 protein and of the neurofilaments in cases subjected to this innovative therapy.
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The operators of the ALS Center of Turin thank the people with ALS and their relatives who participated in the study and the City of Health of Turin for supporting this fundamental research by authorizing the recruitments and the continuation of the study even during the lockdown period for the pandemic Covid.
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