Looking for early biomarkers in Charcot‑Marie‑Tooth 1A
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
We will test whether blood, skin and quantitative MRI measurements can reveal early markers of disease in young people (ages 10–30) with CMT1A compared with healthy volunteers.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 55 (estimated) |
| Ages | 10 Years to 30 Years |
| Sex | All |
| Sponsor | Assistance Publique Hopitaux De Marseille Academic / other |
| Locations | 1 site (Marseille) |
| Trial ID | NCT07049588 on ClinicalTrials.gov |
What this trial studies
This interventional cohort follows about 35 genetically confirmed CMT1A patients and 20 healthy volunteers with repeated visits over the study period to collect clinical scores, nerve conduction studies and quantitative neuromuscular MRI. Blood samples (and optional skin biopsies) will undergo multi-omics analysis including transcriptomics, proteomics and lipidomics to search for prognostic and change‑sensitive biomarkers. Novel clinical outcome measures (CMTES‑R/CMTNSv2‑R, CMT‑FOM, pCMT‑QoL) are used alongside imaging and electrophysiology to link molecular signatures with functional status. The goal is to identify biomarkers that can serve as standardized readouts for disease severity and predict progression in early-stage CMT1A.
Who should consider this trial
Good fit: Young people aged 10–30 with genetically confirmed CMT1A who can walk (with or without assistance) are the intended participants, with healthy volunteers recruited for comparison.
Not a fit: Patients with advanced non‑CMT neuromuscular disease, contraindications to MRI, those under 30 kg, pregnant or breastfeeding people, or those excluded by legal protections are unlikely to benefit from participation.
Why it matters
Potential benefit: If successful, the biomarkers could enable earlier detection of progression and better selection and timing of therapies for children and young adults with CMT1A.
How similar studies have performed: Multi-omics and quantitative MRI approaches have shown promise in biomarker discovery for other neuromuscular disorders, but robust prognostic biomarkers in early CMT1A remain largely unproven and this work is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Marseille
- Assistance Publique - Hôpitaux de Marseille — Marseille, France (Recruiting)
Study contacts
- Study coordinator: Shahram ATTARIAN, PU-PH
- Email: shahram.attarian@ap-hm.fr
- Phone: 04 91 38 65 79
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.