Actively Recruiting
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
Led by Assistance Publique Hopitaux De Marseille · Updated on 2025-07-03
55
Participants Needed
1
Research Sites
156 weeks
Total Duration
On this page
Sponsors
A
Assistance Publique Hopitaux De Marseille
Lead Sponsor
A
Association Française contre les Myopathies (AFM), Paris
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Healthy volunteer or patient with consent for participation (parental consent for minors)
- Genetically confirmed patient with CMT1A or patient with a parent who has genetically confirmed CMT1A
- Ability to walk with or without assistance
- Age between 10 and 30 years
You will not qualify if you...
- Healthy volunteer with neurological disorders
- Healthy volunteer or patient with contraindication to MRI
- Healthy volunteer or patient weighing under 30 kg
- Healthy volunteer on long-term therapy
- Patient with other neuromuscular pathologies
- Patient excluded due to participation in another research protocol at consent signing
- Pregnant or breastfeeding women
- Subjects under legal protection or deprived of liberty
- Subjects unable to read or understand French sufficiently to consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Assistance Publique - Hôpitaux de Marseille
Marseille, France, 13005
Actively Recruiting
Research Team
S
Shahram ATTARIAN, PU-PH
CONTACT
E
Etienne FORTANIER, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
OTHER
Number of Arms
2
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