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Clinical Trials in France / NCT07049588
Recruiting Not applicable

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

NCT07049588 · tracked via the Priya Life Science France tracker
Sponsor
Assistance Publique Hopitaux De Marseille
Phase
Not applicable
Started
2025-06-24
Last updated
2025-07-03

Condition(s) studied

Charcot-Marie-Tooth Disease Type 1A

Investigational drug(s) / intervention(s)

Quantitative neuromuscular MRISkin biopsyClinical scoresBlood testPatient Report Outcomes Measures

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

Study 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

Sex
ALL
Min age
10 Years
Max age
30 Years
Healthy volunteers
Accepted
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

Primary outcome measure(s)

  • Transcriptomic analysis — Between inclusion (month 0) and one year later (month 12)
    RNA seq on blood and skin tissues
  • Proteomic analysis — Between inclusion (month 0) and one year later (month 12)
    Label-free quantitative approach on blood and skin tissues

Trial sites (1)

FacilityCityRegionStatus
Assistance Publique - Hôpitaux de Marseille Marseille France Recruiting

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Other trials for the same condition

Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Active, not recruiting
Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07049588 on ClinicalTrials.gov ↗ ← All trials in France