Charcot-Marie-Tooth Disease Type 1ACMT-MODSNCT07049588
Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
A study testing Quantitative neuromuscular MRI, Skin biopsy and Clinical scores in people with Charcot-Marie-Tooth Disease Type 1A, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 10 to 30 yearsHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease Type 1A
- What is being tested?
- Quantitative neuromuscular MRI, Skin biopsy and Clinical scores
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 55 participants
- Where
- 1 siteFrance
- Study dates
- 24 Jun 2025to 24 Jun 2028
- Phase
- Interventional
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 to 30 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
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- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Assistance Publique - Hôpitaux de Marseille
Marseille, 13005
François CREMIEUX, Managing Director, 04 91 38 27 47 ext. +33, promotion.interne@ap-hm.fr
Shahram ATTARIAN, MD
About this study
Official title: A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
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.
Read the detailed description
The CMT-MODs project aims to conduct a multi-omics analysis (transcriptomics, proteomics, lipidomics) in young patients with early-stage CMT1A. This evaluation should enable the identification of prognostic and change-sensitive biomarkers for use in clinical trials.
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
- Charcot-Marie-Tooth Disease Type 1A
- Being tested
- Quantitative neuromuscular MRI, Skin biopsy, Clinical scores, Blood test, Patient Report Outcomes Measures
- Keywords
- CMT1A, Fat Fraction, CMT Examination Score Rasch, CMT Functional Outcome Measure, Skin Biopsy, histological markers, MRI muscle
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Quantitative neuromuscular MRIOther
Quantification of biomarkers as fat fraction, magnetization Transfer Ratio, muscular volume, relaxation time T2
Skin biopsyOther
Performed on the arm or index finger, depending on patient age
Clinical scoresOther
ONLS, CMTES-R, CMT-Peds, CMT-FOM
Blood testOther
10 ml sample
Patient Report Outcomes MeasuresOther
pCMT-QoL, EVA, WALK-12, PGI-c, SF-12
| Study group | Role | What they receive |
|---|---|---|
| Charcot-Marie-Tooth Neuropathy 1A | Other | Patient with genetically confirmed CMT1A or with a parent whose diagnosis is genetically confirmed, Receives: Other: Quantitative neuromuscular MRI; Other: Skin biopsy; Other: Clinical scores; Other: Blood test; Other: Patient Report Outcomes Measures |
| Healthy volunteers | Other | Patient-matched controls Receives: Other: Quantitative neuromuscular MRI; Other: Skin biopsy; Other: Clinical scores; Other: Blood test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Transcriptomic analysis
RNA seq on blood and skin tissues
Measured: Between inclusion (month 0) and one year later (month 12)
Proteomic analysis
Label-free quantitative approach on blood and skin tissues
Measured: Between inclusion (month 0) and one year later (month 12)
Secondary outcomes (13)
MRI muscle biomarkers : Fat Fraction measure
Measured: Between inclusion (month 0) and one year later (month12)
MRI muscle biomarkers : Magnetization Transfer Ratio
Measured: Between inclusion (month 0) and one year later (month12)
MRI muscle biomarkers : T2 relaxation time
Measured: Between inclusion (month 0) and one year later (month12)
MRI muscle biomarkers : muscle volume
Measured: Between inclusion (month 0) and one year later (month12)
Clinical score : ONLS
Overall Neuropathy Limitations Scale
Measured: Between inclusion (month 0) and one year later (month12)
Clinical score : CMTES-R
CMT Examination Score
Measured: Between inclusion (month 0) and one year later (month12)
Clinical score : CMT-FOM
The CMT-Functional Outcome Measure
Measured: Between inclusion (month 0) and one year later (month12)
Clinical score : CMT-Peds
Charcot-Marie-Tooth Disease Pediatric Scale
Measured: Between inclusion (month 0) and one year later (month 12)
PROM (Patient Reported Outcomes Measures) : pCMT-QoL
Pediatrics CMT Questionnaire of Life
Measured: Between inclusion (month 0), month 6, and one year later (month12)
PROM (Patient Reported Outcomes Measures) : VAS
Visual Analog Scale
Measured: Between inclusion (month 0), month 6, and one year later (month 12)
PROM (Patient Reported Outcomes Measures) : WALK-12
Measured: Between inclusion (month 0), month 6, and one year later (month 12)
PROM (Patient Reported Outcomes Measures) : PGI-c
Patient's Global Impression of change scale
Measured: Between inclusion (month), month 6, and one year later (month 12)
PROM (Patient Reported Outcomes Measures) : SF-12
Measured: Between inclusion (month 0), month 6, and one year later (month12)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jul 2025
- Study start24 Jun 2025 (estimated)
- Primary completion24 Jun 2027 (estimated)
- Study completion24 Jun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth Disease Type 1AStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- Comparison of patient and healthy volunteers data at inclusion (M0) and 12 months (M12)
- Masking
- None (open label)
- Enrolment
- 55 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Collaborators
- Association Française contre les Myopathies (AFM), Paris, University Medical Center Göttingen
- Responsible party
- Sponsor
- Investigators
- François CREMIEUX, Study director, Assistance Publique - Hôpitaux de Marseille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07049588
- Sponsor's protocol ID
- RCAPHM24_0381
- Other IDs
- 2024-A02403-44
- Acronym
- CMT-MODS
- Status last verified
- Jun 2025
- First submitted
- 13 Jun 2025
- Last updated
- 3 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No