Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
Assistance Publique Hopitaux De Marseille
55 participants
Jun 24, 2025
INTERVENTIONAL
Summary
This is a 2-year follow-up study of a cohort of 35 CMT1A patients and 20 healthy volunteers. The main objective is identifying prognostic markers for CMT1A using multi-omics analysis. The study is recruiting subjects between the ages of 10 and 30. The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22. CMT1A patients develop symptoms in early childhood with variable progression and there is no established therapy until now. Therapy must start in childhood, before peripheral nerves degenerate. However, we lack easily obtainable biomarkers in early disease stages. In CMT-MODs, we will identify disease and prognostic biomarkers in young CMT1A patients.
Eligibility
Inclusion Criteria3
- 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 Criteria9
- 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
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Interventions
ONLS, CMTES-R, CMT-Peds, CMT-FOM
10 ml sample
pCMT-QoL, EVA, WALK-12, PGI-c, SF-12
Quantification of biomarkers as fat fraction, magnetization Transfer Ratio, muscular volume, relaxation time T2
Performed on the arm or index finger, depending on patient age
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT07049588