Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (NCT07049588) | Clinical Trial Compass
RecruitingNot Applicable
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
France55 participantsStarted 2025-06-24
Plain-language 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.
Who can participate
Age range
10 Years – 30 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Transcriptomic analysis
Timeframe: Between inclusion (month 0) and one year later (month 12)
2
Proteomic analysis
Timeframe: Between inclusion (month 0) and one year later (month 12)