An international study that also involved Italy highlights improvements in disease markers thanks to the drug tofersen, without yet to observe any tangible benefit on patients.
There are important advances in the search for a cure for Slathe amyotrophic lateral sclerosis neurodegenerative disease that causes a degeneration of motor neurons, the nerve cells of the brain and spinal cord that allow movements of the skeletal muscles. A study just published in the New England Journal of Medicine showed un improvement in biomarkers of the disease on treated patients Tofersen, an antisense oligonucleotide (ASO) that acts selectively on messenger RNA, blocking the synthesis of the altered protein. The Molinette Citt della Salute hospital in Turin also took part in the international study.
Therapy affects only 1% of ALS patients
well to clarify that it is not about universal therapy against ALS because the treatment works on patients carrying the Sod1 gene mutation and therefore only interests a small percentage of people with ALS. The publication of the study is exceptional news and the work widely known by the scientific community, but it is important to emphasize that only a very small part of patients involved – he explains Nilo Riva, neurologist and researcher at the IRCSS San Raffaele Hospital in Milan -. To understand, 10% of ALS cases have a familiarity (other cases in the family) and within this 10% only 10-20% of patients have the Sod1 mutation, so roughly we do not reach perhaps 1% of the population with amyotrophic lateral sclerosis, in Italy a few dozen patients. This does not diminish the value of the discovery that has affected something that until now has been impenetrable.
The experimental study involved 108 individuals affected by ALS with mutation in the Sod1 gene (72 participants received tofersen with lumbar injection and 36 received placebo). The volunteers were divided into patients with rapid and slow progression and the research had two phases: a first of 6 months and a second extension of the study still in progress. The significant reduction of the Sod1 protein and of neurofilaments, typical markers of the disease, in cases subjected to this innovative therapy is relevant, according to what is highlighted by Turin. The positive effect of the drug manifests itself clearly during the first year of treatment and subsequently persists over time, Professor said Adriano Chidirector of the regional expert center for ALS of the Molinette hospital in the City of Health of Turin, one of the authors of the work.
For now, no clinical improvement
Among other things, the researchers in the conclusions highlight, in addition to the severe neurological effects in 7% of patients who received the drug, the fact that there was no clinical improvement in patients. At least not yet Being the devastating disease – adds Nilo Riva – from which there is no turning back, the researchers they failed to see improvement in the patients’ conditions or a clinical benefit, but only an improvement of the markers, that is the reduction of the concentration of Sod1 in the spinal fluid and a decrease of the light chains of the neurofilaments, two markers of the disease. Although the result is exceptional, no tangible benefit has yet been seen for the patient, also given the small number of people treated and the still limited time elapsed since the treatment.
September 22, 2022 (change September 22, 2022 | 18:13)
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