Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease

The CMT-MODs project aims to conduct a multi-omics analysis (transcriptomics, proteomics, lipidomics) in young patients with early-stage CMT1A. This evaluation should enable the identification of prognostic and change-sensitive biomarkers for use in clinical trials.

A large cohort of CMT1A children, adolescents and young adults aged 10-30 years over 12 months applying the novel clinical outcome measures CMT Examination Score/CMT Neuropathy Score Version Version 2 Rasch versions (CMTES-R/CMTNSv2-R), the functional outcome measure CMT-FOM, pCMT-Qol, as well as a nerve conduction study (NCS) and quantitative MRI will be assessed.

Blood (and optional skin) samples will be taken and gene expression of the most promising candidates will be identified.

This assessment of CMT patients at early disease stages will allow CMT-MODs to establish biomarkers that may serve as a standard readout for disease severity and predict the disease course.

Inclusion criteria

• Healthy volunteer or patient who has given consent for participation in the study or, for minors, a healthy volunteer whose two parents have given consent for participation in the study.
• Patient with genetically confirmed CMT1A or with a parent whose diagnosis is genetically confirmed
• Patient able to walk with or without assistance

Exclusion criteria

• Healthy volunteer with neurological disorders
• Healthy volunteer or patient with a contraindication to MRI,
• Healthy volunteers or patient under 30 kg
• Helathy volunteer on long-term therapy
• Patient with other neuromuscular pathologies
• Patient in a period of exclusion from another research protocol at the time of signing the consent/non-opposition form
• Pregnant or breast-feeding women
• Subjects covered by articles L1121-5 to 1121-8 of the French Public Health Code (minors, adults under guardianship or trusteeship, patients deprived of their liberty, pregnant or breast-feeding women)
• Subjects who cannot read and understand the French language well enough to be able to give their consent to participate in research