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Amyotrophic Lateral Sclerosis, how scientific research is revolutionizing the fight against ALS

In Italy it strikes around 6000 people, with a higher incidence in men than women. Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with a average survival of 3-5 years from the onset of the first symptoms. It acts on motor neuronsthe cells of the brain and spinal cord that control muscle movements: those affected gradually lose the ability to move, speak, swallow and breathe.

On the occasion of Global SLA Day, which falls on June 21st, the Italian Society of Neurology (SIN) took stock of the significant progress in the diagnostic and therapeutic field that scientific research has recorded in recent years to fight this pathology.

Among the new features there is not only the introduction of new imaging techniques and theuse of artificial intelligence algorithms (AI) for disease identification, but also the use of a European platform called TRICALS which unites research centers in different countries with the aim of conducting collaborative clinical trials and accelerating the development of new therapies.

The new diagnosis models

«To reach one increasingly rapid and accurate diagnosis, the research focused on the identification of biomarkers”, explains Professor Nicola Ticozzi, Coordinator of the Motor Neuron Diseases Study Group of the SIN.** **”Proteins such as the neurofilament light chain (NfL) in plasma and fluid cerebrospinal fluid are now considered reliable indicators of neurodegeneration and can be used to assess disease prognosis and response to treatments. Other emerging biomarkers, such as GFAP, phosphorylated tau and specific microRNAs may provide further information on pathogenesis of ALS and help in patient stratification for clinical trials», he specifies.

Still in the diagnostic field, «new imaging techniques and the use of artificial intelligence (AI) algorithmswhich promise to revolutionize the way it will be identified ALS. «Recent studies have shown how AI can analyze MRI data to detect early changes in the brain and spinal cord of people with ALS, allowing a more timely diagnosis and a better one characterization of the phenotype clinical”, he adds Ticozzi.

New discoveries about the disease

ALS, a protein whose presence can contribute to the development of the disease has been identified
A US team has discovered that PEG10, also involved in the development of the placenta, if overexpressed can be associated with amyotrophic lateral sclerosis

Scientific research has also seen important discoveries about molecular mechanisms of ALS. Recent studies have identified new genes associated with the disease and have demonstrated how dysfunctions in several cellular metabolic pathways, such as RNA metabolism, degradation of damaged proteins and axonal transport can cause the death of motor neurons.

At the same time, technology CRISPR-Cas9 is allowing researchers to create experimental models of illness more and more accurate, facilitating the development of new therapies. In particular, the use of cerebral organoids has opened new frontiers in ALS research.

Created from induced pluripotent stem cells derived from people with ALS, these organoids are providing valuable information on pathogenetic mechanisms and response to potential therapies, because they allow you to study the development and degeneration of motor neurons in a three-dimensional structurewhich more closely replicates the human brain environment than traditional two-dimensional models.

The new frontiers of therapy

On the therapeutic front, recent years have seen a significant increase in the variety and number of ALS clinical trial studies. This was also possible thanks to the European platform TRICALS, which unites research centers in several countries including Italy, with the aim of conducting collaborative clinical trials and accelerating the development of new therapies. «This innovative platform allows you to evaluate different experimental treatments simultaneously, dynamically adding or removing treatments based on efficacy and safety data collected in real time”, explains Professor** **Alessandro Padovani, President of the Italian Society of Neurology. «An approach that has potential to significantly reduce the time needed to identify effective therapies compared to traditional trials.”

Towards increasingly innovative treatments

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Turin, the first effective cure against ALS discovered
The surprising results that emerged from an experiment on a group of patients were published in the most prestigious scientific journal in the world

«The acceleration of research in the therapeutic field has led in the last year to the approval by the European Medicines Agency (EMA) of Tofersenan antisense oligonucleotide (ASO) targeted to the SOD1 gene, which has been shown in clinical trials to slow disease progression in people with mutations in this gene”, adds the professor Valeria SansoneFull Professor at the University of Milan.

The “discovery” took place in Turin, where an international study tested the drug on about a hundred patients who found a slowdown in the decline of clinical and respiratory function and an improvement in the quality of life, fundamental measures for people living with this devastating disease.

“Other clinical trials are examining ASO-based therapies for other ALS-associated genes, and very encouraging, although preliminary, results have been obtained for an ASO targeting the FUS gene.”

It is true that there is still a long way to go, however, diagnostic innovations, the understanding of molecular mechanisms, the development of new experimental models, new biomarkers and emerging therapies are changing the landscape of ALS. These advances are offering new hope for earlier diagnosis, more precise disease monitoring and more effective treatments, thus improving the quality of life of people affected by ALS.

Source: Vanity Fair

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