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
Conditions
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
Plain Language Summary
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Interventions
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
ONLS, CMTES-R, CMT-Peds, CMT-FOM
10 ml sample
pCMT-QoL, EVA, WALK-12, PGI-c, SF-12
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT07049588