The Molinette hospital in Turin is among the protagonists of a revolutionary study: the discovery of a first cure for amyotrophic lateral sclerosis in patients with a specific genetic mutation. A progress that could rekindle hope for “thousands of people, 6 thousand in Italy alone», He explains in an interview with The print Adriano Chiòdirector of the Regional Expert Center for the SLA of the Molinette hospital of the City of Health. The results of the international study on the new drug for the slowdown, and in some cases even the reversal of the clinical progression of ALSwere published yesterday in the New England Journal of Medicine. It is the most prestigious medical journal.
An extraordinary discovery
The study, carried out in collaboration with German, French, British and US institutes, explains that the treatment is effective in people who carry the mutation in the Sod1 gene. The drug is called Tofersen, has not yet entered the market but has been made available by the company and has been testing it for about two and a half years. It does not appear to have any relevant side effects and was created specifically for patients with the aforementioned genetic mutations. It needs to be injected: one lumbar puncture per month. “Nothing like this has ever been seen for this disease”, explains Chiò again. The study, which ended in July 2021, focused on that specific type of gene because “the active ingredient, the oligonucleotideit serves to intervene on the genetic forms of diseases: they started from the better known gene ».
But soon, Chiò announces, further international studies on another gene will be opened: «yesi call FUS. The drug will be different, even if with the same mechanism of action ». Therefore, “in the not too distant future” other products will arrive, “always in experimentation”. In any case, start a new page for research, adds Chiò interviewed by Republic: it is «a psychological step forward for the near future because we have seen that a result is possiblethere are drugs that can slow down the disease ».