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RECRUITING
NCT07049588
NA

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

Sponsor: Assistance Publique Hopitaux De Marseille

View on ClinicalTrials.gov

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

Interventions

OTHER

Quantitative neuromuscular MRI

Quantification of biomarkers as fat fraction, magnetization Transfer Ratio, muscular volume, relaxation time T2

OTHER

Skin biopsy

Performed on the arm or index finger, depending on patient age

OTHER

Clinical scores

ONLS, CMTES-R, CMT-Peds, CMT-FOM

OTHER

Blood test

10 ml sample

OTHER

Patient Report Outcomes Measures

pCMT-QoL, EVA, WALK-12, PGI-c, SF-12

Locations (1)

Assistance Publique - Hôpitaux de Marseille

Marseille, France