Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
NCT ID: NCT07049588
Last Updated: 2025-07-03
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
NA
55 participants
INTERVENTIONAL
2025-06-24
2028-06-24
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Longitudinal Biomarkers with Selected Outcome Measures in CMT
NCT06794489
Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
NCT02596191
Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study
NCT03550300
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01193075
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
NCT04881201
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
A large cohort of CMT1A children, adolescents and young adults aged 10-30 years over 12 months applying the novel clinical outcome measures CMT Examination Score/CMT Neuropathy Score Version Version 2 Rasch versions (CMTES-R/CMTNSv2-R), the functional outcome measure CMT-FOM, pCMT-Qol, as well as a nerve conduction study (NCS) and quantitative MRI will be assessed.
Blood (and optional skin) samples will be taken and gene expression of the most promising candidates will be identified.
This assessment of CMT patients at early disease stages will allow CMT-MODs to establish biomarkers that may serve as a standard readout for disease severity and predict the disease course.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
NON_RANDOMIZED
PARALLEL
OTHER
NONE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Charcot-Marie-Tooth Neuropathy 1A
Patient with genetically confirmed CMT1A or with a parent whose diagnosis is genetically confirmed,
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
Healthy volunteers
Patient-matched controls
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
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
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
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* 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 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
10 Years
30 Years
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Association Française contre les Myopathies (AFM), Paris
OTHER
University Medical Center Göttingen
UNKNOWN
Assistance Publique Hopitaux De Marseille
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
François CREMIEUX
Role: STUDY_DIRECTOR
Assistance Publique - Hôpitaux de Marseille
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Assistance Publique - Hôpitaux de Marseille
Marseille, , France
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
2024-A02403-44
Identifier Type: OTHER
Identifier Source: secondary_id
RCAPHM24_0381
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.