There is a first hope for patients with amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease) after today, Thursday 22 September 2022, in the world‘s most prestigious scientific journal in the medical field, the New England Journal of Medicine, the results of the international study on Tofersen have been published, which demonstrated a slowdown and in some cases even a reversal of the clinical progression of the terrible disease. The treatment is effective in people who carry the mutation in the SOD1 gene.
“This is – says Professor Adriano Chiò, director of the regional expert center for ALS at the Molinette hospital of the City of Health of Turin) of an extraordinary clinical result, never previously observed in the treatment of ALS. The positive effect of the drug is manifests clearly during the first year of treatment and subsequently persists over time. 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 patients rapid in the world “.
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 six 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.
“The operators of the ALS Center of Turin – say the operators – thank the people with ALS and their relatives who participated in the study and the City of Health of Turin for having supported this fundamental research by authorizing the recruitments and the continuation of the study also during the lockdown period for the covid pandemic “.