An Italian multicenter study uses Artificial Intelligence to demonstrate the correlations between the information obtained from blood tests and the possibility to promptly diagnose the disease and predict its evolution. The results of the study were published in Molecular Neurodegeneration
Artificial Intelligence will make it possible not only to promptly diagnose the onset of Amyotrophic Lateral Sclerosis (ALS) but also to predict its course. The study, which appeared in the scientific journal Molecular Neurodegeneration, found that a particular blood test will make it possible to decode a sort of 'message in a bottle' released by the cells and which contains information on their state of health. An important perspective for a disease that is usually diagnosed after several medical exams repeated over time by an experienced neurologist. The discovery is the result of the Italian multicenter study conducted and coordinated by Valentina Bonetto, head of the Laboratory of Translational Biomarkers of the Mario Negri Institute for Pharmacological Research, and by Manuela Basso of the Department of Cellular, Computational and Integrative Biology - Cibio of the University of Trento, in collaboration with the CRESLA center, AOU Città della Salute e della Scienza of Torino, the University Hospital of Padova and, in Milan, Centro Clinico NeMO, ICS Maugeri and Casa Cura Policlinico.
The vesicles, collected by blood sampling, were isolated and characterized. The data obtained were then analyzed and examined by Francesco Rinaldi of the Mathematics Department of the University of Padova, who used Artificial Intelligence (AI) models to accurately predict whether the extracellular vesicles belonged to a healthy individual or to an individual with ALS.
"We have developed - explains Laura Pasetto of the Mario Negri Institute, first author of the study - a rapid protocol that allows us to measure the characteristics of the extracellular vesicles in the blood of ALS patients. We have decoded the information deriving from these small lipid particles circulating in the blood and have understood how to distinguish these patients from others who have other neurological and muscular diseases".
"The collected data with this characterization - adds Manuela Basso - show that the vesicles of ALS patients have different sizes and protein levels compared with data from healthy individuals and from patients with muscular dystrophies or Kennedy's disease, who can show similar symptoms in the early stages. Using these parameters, we were also able to accurately predict the rate of disease progression".
"ALS patients - explain Andrea Calvo (of Centro regionale esperto per la SLA in Torino, AOU Città della Salute e della Scienza di Torino and Department of Neuroscience of the University of Torino) and Christian Lunetta (of Centro clinico NeMO in Milan and medical director of AISLA) - obtain a conclusive diagnosis, on average, about a year after the onset of the symptoms, experience long periods of frustration, and participate with great delay in experimental treatment protocols, which reduces the chances of success. The disease is also very heterogeneous both in terms of aggressiveness and speed of progression, making it difficult to determine a prognosis and to plan a treatment. "The identification of specific and predictive biomarkers for diagnosis and prognosis - concludes Valentina Bonetto - would therefore be of great help not only for the clinical management of patients but also for the development of an effective treatment. The same results have emerged in animal models and this also holds promise for the monitoring of future drug trials. Validation studies will begin soon to transfer the findings, based on a sample made up of 106 ALS patients and 96 control subjects, to clinical practice".
Amyotrophic Lateral Sclerosis or ALS is the most common disease affecting motor neurons, which are essential to stimulate skeletal muscles and motion. It is a neurodegenerative disease with a poor prognosis. Despite numerous advances in basic and clinical research, there is no cure for this disease, which is diagnosed when the first motor symptoms appear, that is when damage is already present. The Laboratory of Translational Biomarkers of the Mario Negri Institute has been studying new markers for years to anticipate the diagnosis of the disease over time and define the prognosis more accurately.
The news comes on the eve of the 14th National ALS Day, organized by AISLA, the Italian Association of Amyotrophic Lateral Sclerosis, which is celebrated on Sunday 19 September in hundreds of Italian squares. Determined to change the history of this still incurable disease, AISLA underlines the need to continue to fund scientific research and the results of this study, made possible by the expertise and commitment of many Italian neurologists.
The research was mainly funded by the Ministry of Health (Progetto di Ricerca Finalizzata "Giovani Ricercatori" GR-2016-02361552), with Basso and Pasetto respectively as project coordinator and co-project coordinator, and by the European Marie-Sklodowska-Curie Individual Fellowships (no. 752470 for Manuela Basso).
Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis.
Laura Pasetto, Stefano Callegaro, Alessandro Corbelli, Fabio Fiordaliso, Deborah Ferrara, Laura Brunelli, Giovanna Sestito, Roberta Pastorelli, Elisa Bianchi, Marina Cretich, Marcella Chiari, Cristina Potrich, Cristina Moglia, Massimo Corbo, Gianni Sorarù, Christian Lunetta, Andrea Calvo, Adriano Chiò, Gabriele Mora, Maria Pennuto, Alessandro Quattrone, Francesco Rinaldi, Vito Giuseppe D’Agostino, Manuela Basso and Valentina Bonetto. Molecular Neurodegeneration, 2021.