Rethinking the diagnosis of Multiple Sclerosis and related disorders, Rome

Early diagnosis is increasingly recognized as key for moving towards cure in brain disorders. It translates into the possibility of early application of disease-modifying interventions, which can minimize the damage to the central nervous system. In disorders such as Multiple Sclerosis (MS), they can delay the aggregation of disability, which matters tremendously to the patients. Rethinking the diagnosis of MS and related disorders was the main theme of the Annual Scientific Congress of the AISM - Italian MS Society and its Foundation 28-29 May 2024.

NeuroCentury’s Paweł Świeboda spoke at the Congress on how building a more complete data ecosystem, can move the needle with respect to early diagnosis. Large data analysis is necessary because of heterogeneity of MS when it comes to symptoms, sites of damage, or disease trajectory. In MS, there is lack of strict correspondence between the severity of lesions on nerve fibers and patients’ symptoms, with the latter being present already up to ten years before diagnosis. Being able to quantify those at the population scale allows the prodromal phase to be defined, together with the onset of the inflammatory process, enabling the targeting of interventions.

The AISM is advancing an ambitious project of “Barcoding MS”, addressing several axes of big data in healthcare: depth of phenotyping (clinical, genomics, instrumental, biometrics, etc.), longitudinal follow-up, heterogeneity of cohorts (age, sex, ethnicity, social status), linkage between different data sources (eg. genomics with clinical reports), standardization and harmonization of data. In the area of MS, this will be one of the most far-reaching projects in Europe. It can only benefit from being closely integrated into the emerging European Health Data Space.