We are asking you to participate in a clinical research funded by the European Commission (through the Horizon Europe program) and coordinated by the University of Modena and Reggio Emilia in collaboration with other nationally and internationally renowned centers dealing with hereditary neuromuscular diseases (HNMD) in order to collect clinical data, from muscle MRI (on clinical indication), muscle biopsy (on clinical indication) and DNA analysis from patients suffering from hereditary neuromuscular diseases.

The study aims to create a new generation of methods for “precision diagnosis” that allows researchers and/or healthcare professionals to successfully diagnose patients suffering from hereditary neuromuscular diseases (HNMD). Through the application of methods based on the use of Artificial Intelligence and Machine Learning the study aims to provide new perspectives in the knowledge of the pathogenetic and transmission mechanisms of hereditary neuromuscular diseases, but also to improve the future prognosis, which is often difficult to predict in clinical practice.

This study collects data from muscle magnetic resonance imaging (MRI), muscle biopsy (performed when clinically indicated), and DNA analysis. This data is then used to analyze the genome in correlation with both (i) the patient’s clinical evaluation and (ii) the MRI and muscle biopsy results.

The study involves third-level centers in France (CERBM), Germany (LMUM), Finland (SFF), the United Kingdom (UNEW) and Italy (UNIMORE and FSM) and the enrollment of 150 patients. The collected data will then be integrated and analyzed using Machine Learning and Artificial Intelligence techniques by project partners located in Poland (SUT) and Switzerland (FINC), in order to provide new perspectives in the knowledge of pathogenetic mechanisms and transmission of HNMD. Each person participating in the study will be clinically evaluated according to a standardized protocol in the reference center.

A blood sample is taken from the partecipant and delivered to the MIOGEN Laboratory to start the genomic DNA extraction procedure. The genomic DNA is then transferred to the project partner who will provide the genome sequencing analyzes (CeGaT).

This procedure includes:

1) the purification and isolation of mononuclear blood cells from the blood sample taken

2) the extraction of genomic DNA necessary for genome analysis.

This analysis allows us to obtain information regarding all the DNA sequences, coding and non-coding, contained in the individual’s genome. To study the muscles of the patient, a nuclear magnetic resonance analysis is carried out to characterize the affected muscles from a radiological point of view. To characterize the muscle affected by the disease from a microscopic point of view, a muscle biopsy is carried out. The data obtained from the above tests will be integrated and analyzed by a system of algorithms (Machine Learning) that exploit Artificial Intelligence.

If you have already developed symptoms related to HNMD and wish to know all the details and request further information about the CoMPaSS-NMD clinical study you can contact the principal investigator, Prof. Rossella Ginevra Tupler, Department of Biomedical, Metabolic and Neurosciences of the University of Modena and Reggio Emilia.

Phone number: (+39) 059 2055171,

Email address: rossella.tupler@unimore.it