CoMPaSS-NMD

CoMPaSS-NMD is an EU-funded project that creates novel and universal tools for the identification of diagnostic groups of patients suffering from Hereditary NeuroMuscular Diseases (HNMDs) aiming at personalised treatments. HNMDs often occur in young people, causing long-term disability and early death; these conditions bring lack of participation, need for permanent assistance, and may require long-term institutionalisation. Multidimensional HNMD data - clinical, genetic, histopathological and MRI – will be provided by third-level clinical centres in Italy, France, Germany, Finland, and the United Kingdom as part of the European Reference Network for Rare Neurological Diseases. Computational tools for high-dimensional clustering will be applied in an unsupervised learning approach using the internal structure of data to define groups of similar patients. Classification model averaging and integration techniques for federated learning-inspired model building and novel HNMD-specific descriptors of histopathological images will be implemented. The adoption of this multidimensional view has the potential to increase the diagnostic rate of HNMDs by 30% and foster effective actions by European national health systems. As the main project outcome, the CoMPaSS-NMD Atlas Platform will be a cost-effective AI-based application providing precise clinical characterization and diagnosis, with data remaining publicly available for anyone in the research and health community to use. The project will deliver Recommendations and Guidelines for stratification-based patient management to offer superior standard-of-care for diagnosis and prognosis and assist in planning clinical trials. It will follow a user-centred, co-design methodology with a strong stakeholder engagement and networking with other project consortia.