Amyotrophic lateral sclerosis (ALS) “belongs to neurodegenerative diseases”, in which “motor neuron cells die, which cause muscles to move. The consequence is the progressive paralysis of all muscles, even those that make us speak, breathe and swallow. It affects 6 thousand people in Italy: it is a rare disease, but not too much. Currently we do not have effective therapies because we still do not fully understand the mechanisms, but it is true that in recent years we have been acquiring important knowledge. We had so many avenues open for therapy. We have found the path of genetics which is giving very good results“. These are the words of Mario Sabatellipresident of the scientific medical commission of Aisla (Italian Association of Amyotrophic Lateral Sclerosis) and adult clinical director Centro Nemo Roma at the Gemelli hospital, on the occasion of the 15th National ALS Day which is celebrated on Sunday 18 September.
“We know – continues the professor – that certainly 15-20% of cases is due, in a certain way, to a genetic defect. In another 20-30%, genetic involvement is extremely probable“. It seems possible that” all people with ALS have something wrong with the recipe book of how we are made, our DNA, and this is what the research focuses on. If we discover the causes we can identify therapeutic targets “. This, Sabatelli underlines, “happened for the 2 genes involved in ALS: one is Sod-1 and the other is C9orf. For both, molecules have been found that interfere with the gene and limit its damage. And the novelty of these last months are the promising results for the Sod-1 gene. We have to study all the mutations. For the other gene, however, the result is not good, but we must continue: this is the way “.
Research is a fundamental aspect because “it gives hope to us clinicians and to people affected by this terrible disease”, says Riccardo Zuccarino, physiatrist Aisla listening center and clinical director of the Nemo Trento Center. “Patients and their families often feel a stagnant situation. There is no effective therapy and this aggravates the sense of loneliness. In reality there is a lot of work, a lot of research that is not seen, but there is. Trentino makes it possible to bring together the basic research part with an excellent clinical response and territorial network service: it gives a concrete answer for future development, we hope for new therapies for this disease “.
In this context, the reason for the Congress is clear “SoloLavorandoAssieme“scheduled in Trento for Saturday 17 September, the eve of the 15th edition of the National ALS Day. An appointment to talk about ALS and to send the message that only by working together is it possible to face the complexity of this neurodegenerative pathology.
It is thanks to the foresight of the Autonomous Province of Trento and its Provincial Health Services Agency that, accepting the request of patient associations, the Nemo Trento Center has been operational for just over a year, which, to date, has taken over I load over 240 patients, of which about 40% come from outside the Province, mainly from the Triveneto area. The congress, under the aegis of AIsla, focuses on the synergy between research, clinic and assistance in the area to support patients.
“A special occasion – says Zuccarino – because, at the Trentino level, a series of situations have come together that have become a virtuous flywheel.” And the promoters of the initiative entrust the words of professor Carlo Borzaga – over forty years in research and teaching, president emeritus of Euricse and today also a witness of what it means in person to face the disease – the presentation of the aims of the appointment: “A meeting that wants to share with the sick and their families the research, care and assistance work in the area that is developing in the Province of Trento and, at the same time, it wants to tell how the different realities are collaborating with each other “.