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Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
Sponsor: Assistance Publique Hopitaux De Marseille
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.
Official title: A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
Key Details
Gender
All
Age Range
10 Years - 30 Years
Study Type
INTERVENTIONAL
Enrollment
55
Start Date
2025-06-24
Completion Date
2028-06-24
Last Updated
2025-07-03
Healthy Volunteers
Yes
Conditions
Interventions
Quantitative neuromuscular MRI
Quantification of biomarkers as fat fraction, magnetization Transfer Ratio, muscular volume, relaxation time T2
Skin biopsy
Performed on the arm or index finger, depending on patient age
Clinical scores
ONLS, CMTES-R, CMT-Peds, CMT-FOM
Blood test
10 ml sample
Patient Report Outcomes Measures
pCMT-QoL, EVA, WALK-12, PGI-c, SF-12
Locations (1)
Assistance Publique - Hôpitaux de Marseille
Marseille, France