Neuromuscular diseases for 500,000 and the EU plays the artificial intelligence card

Over 500,000 people in Europe live with a hereditary neuromuscular disease. These diseases present with a muscle weakness that progressively limits movement and can lead to wheelchair or breathing difficulties, in other words, loss of independent living. They can occur at any age. The vast majority of those affected, 60-70%, have no precise molecular diagnosis. The result is a diagnostic limbo that weighs like a second disease.

Without a definite diagnosis, one cannot make reliable predictions about how the disease will evolve over time, nor can one offer adequate genetic and reproductive counselling, nor can one access targeted therapies or clinical trials. The human cost is made up of uncertainty, anxiety and decisions made in the dark (e.g. "will I ever be able to have a child?"). The economic and social cost is less obvious to most. Undiagnosed patients face an odyssey made up of repeated visits, expensive examinations, waiting lists, and travel between different centres. They often receive non-specific or delayed treatment. Obtaining an accurate diagnosis would make it possible to plan and improve care with the aim of counteracting the advance of the disease and reducing disability. It should be remembered that in Italia, spending on disability pensions and assistance related to musculoskeletal diseases exceeds 30,000 euros per year per patient.

CoMPaSS-NMD 'Computational Models for new Patient Stratification Strategies of Neuromuscular Disorders', a European project funded by the Horizon Europe programme and coordinated by the undersigned from the University of Modena and Reggio Emilia, was born in this scenario. CoMPaSS-NMD brings together clinical centres in Italia, Germany, France, Finland and the United Kingdom, with experts in Artificial Intelligence in Poland and ICT in Switzerland, data protection and GDPR in Spain, a German biotech specialising in DNA sequencing and a centre specialising in communication.

What does CoMPaSS do? The project collects and integrates clinical, genetic, histological and MRI data to analyse them with advanced computational and artificial intelligence models. For what purpose? Through the collection of information acquired with unambiguous, standardised procedures that can be used throughout Europe, the project aims to develop tools capable of recognising similar disease profiles, grouping patients into homogeneous subgroups by biological and clinical characteristics to increase correct diagnoses and shorten diagnostic times, thus achieving precision medicine, which is fundamental for both treatment and research.

Thanks to CoMPaSS-NMD, the physician will be able to move more quickly towards the correct diagnosis, even in the most complex cases. The CoMPaSS-NMD methodology, by integrating digital tools, standardised clinical data and a multicentre network, can be easily extended to other centres, countries and patient groups. At the heart of the project is a European Digital Atlas of Inherited Neuromuscular Diseases: a shared platform, which will enable clinicians and researchers to consult and compare validated clinical and genetic information. An infrastructure in which the European Union has believed since 2023 (the project was funded with 6 million euros and will end next April 2027) and which, in the form of guidelines and strategies based on scientific evidence, can become the prerequisite for better management and stratification of patients.