Discovering biomarkers of disease progression and variability in Charcot-Marie-Tooth neuropathy

Charcot-Marie-Tooth (CMT) disease refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The disease is genetically and clinically highly heterogeneous. Individuals with CMT manifest with symmetric, slowly progressive distal motor and sensory neuropathy. There are studies reporting potential biomarkers in CMT that correlates with disease severity and also biomarkers that change over time - various genes, proteins or metabolites are considered to hold biomarker potential in CMT. Neurofilament light (NfL) levels was discovered as a sensitive biomarker of neuronal damage. NfL seems promising not only to reflect clinical disease severity, but also disease progression. To identify these biomarkers, we will analyse multiple clinical and blood-based biomarkers. Based on available studies from CMT, we hypothesize that genetic, miRNAome and metabolic factors can explain significant part of the clinical variability, severity and that neurofilament light chain level and metabolic factors could be associated with disease progression. These can also be useful candidate biomarkers in patients with Charcot-Marie-Tooth's disease. The aim of the project is to evaluate genetic, miRNA and metabolic factors association with the clinical CMT variability and severity, to characterize neurofilament light chain level and metabolic factor association with disease progression in the Charcot-Marie-Tooth polyneuropathy.