The joint research between the Molinette hospital in Turin and the National Institutes of Health has identified a set of biomarkers capable of recognizing the amyotrophic lateral sclerosis with an accuracy greater than 98%
The news comes from Turin, where the team led by Adriano Chiò, director of neurology 1 university of the city of health in Turin and Andrea Calvo, neurologist of the same hospital, He worked closely with colleagues from the Unit of Health National Institutes in the United States. Together they identified a group of protein in the blood that could revolutionize the diagnosis of the Amiotrophic lateral sclerosis (SLA). Today the disease is recognized only after months, often over a year from the debut of symptoms. This delay means wasting precious time to start available care or to insert patients in clinical trials. The joint study, published on Nature Medicine, Instead, it shows that the analysis of over three thousand plasma proteins has led to isolate a panel of 33 proteins significantly altered in patients compared to the control group of healthy individuals.
The most innovative aspect is the use of artificial intelligence to process data: The researchers have developed an algorithm capable of distinguishing with a precision of 98.3% between those suffering from Sla and those who are not. A very high percentage, which if confirmed on a large scale could really change the fate of many sick people. «The discovery – the researchers in a press note are based on avant -garde technology in the field of proteomics, called Olink Explore 3072which allows you to measure the concentration of over 3,000 proteins circulating in plasma with extreme precision. These results represent a real turning point: For the first time we have a potential tool not only to improve and accelerate the diagnosis of the disease, but also to identify it in a very early phase, allowing to intervene in a more immediate and more targeted way “. The goal is now to transform this discovery into a clinical test available in hospitals and neurological centers. To understand the impact of this research, it is necessary to remember what Sla is: it is a neurodegenerative disease that affects motorhols, the nerve cells that command the voluntary muscles. When these cells die, the muscles gradually weaken to compromise vital functions such as speaking, swallowing and breathing. The incidence is relatively low, two or three new cases every one hundred thousand people per year, but the prognosis remains severe: The average survival is two to four years after the diagnosis. There are exceptions, with patients who live over a decade, but unfortunately it is a small minority. To date, the diagnosis of ALS was based mainly on the clinic, on neurological tests and on the exclusion of other pathologies. There are no specific tests And this has always represented a barrier: the average delay of twelve months between the first symptoms and the official recognition of the disease is one of the main critical issues. That’s why the possibility of a simple blood examination, capable of giving a clear and rapid response, is welcomed by the scientific world as a real revolution. Even on the care front, the road is uphill. The first approved drug, the shinemanages to slow down the progression of a few months. In recent years, innovative drugs such as Tofersen have arrived, aimed at patients with sod1 genetic mutation, and experimental combinations that aim to protect neurons from oxidative stress: however No therapy is still able to stop the disease. The multidisciplinary approach is therefore fundamental: respiratory, nutritional and speech therapy support, together with early palliative assistance, significantly improve the quality of life.
The discovery of new biomarkers, such as those identified in the US -Turin study, could open unpublished scenarios. Not only a faster diagnosis, but also The possibility of better monitoring the response to therapiesselect suitable patients for trials and customize treatments. In perspective, knowing the disease in its initial stages also means intervene when many neurons are still vitalincreasing the hope of effective cure.
