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NCT Number: NCT07049588

Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease

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.

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Key information

Conditions

Charcot-Marie-Tooth Disease Type 1A Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

10 year–30 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Assistance Publique - Hôpitaux de Marseille

Marseille, 13005, France

Location status: Recruiting

Location contact

Etienne FORTANIER, MD

SUB_INVESTIGATOR

François CREMIEUX, Managing Director

CONTACT

[email protected]

04 91 38 27 47 ext. +33

Shahram ATTARIAN, MD

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Quantitative neuromuscular MRI

Other

Quantification of biomarkers as fat fraction, magnetization Transfer Ratio, muscular volume, relaxation time T2

Skin biopsy

Other

Performed on the arm or index finger, depending on patient age

Clinical scores

Other

ONLS, CMTES-R, CMT-Peds, CMT-FOM

Blood Test

Other

10 ml sample

Patient Report Outcomes Measures

Other

pCMT-QoL, EVA, WALK-12, PGI-c, SF-12

Primary outcomes

  1. Transcriptomic analysis

    Time frame: Between inclusion (month 0) and one year later (month 12)

    RNA seq on blood and skin tissues

  2. Proteomic analysis

    Time frame: Between inclusion (month 0) and one year later (month 12)

    Label-free quantitative approach on blood and skin tissues

Secondary outcomes

  1. MRI muscle biomarkers : Fat Fraction measure

    Time frame: Between inclusion (month 0) and one year later (month12)

  2. MRI muscle biomarkers : Magnetization Transfer Ratio

    Time frame: Between inclusion (month 0) and one year later (month12)

  3. MRI muscle biomarkers : T2 relaxation time

    Time frame: Between inclusion (month 0) and one year later (month12)

  4. MRI muscle biomarkers : muscle volume

    Time frame: Between inclusion (month 0) and one year later (month12)

  5. Clinical score : ONLS

    Time frame: Between inclusion (month 0) and one year later (month12)

    Overall Neuropathy Limitations Scale

  6. Clinical score : CMTES-R

    Time frame: Between inclusion (month 0) and one year later (month12)

    CMT Examination Score

  7. Clinical score : CMT-FOM

    Time frame: Between inclusion (month 0) and one year later (month12)

    The CMT-Functional Outcome Measure

  8. Clinical score : CMT-Peds

    Time frame: Between inclusion (month 0) and one year later (month 12)

    Charcot-Marie-Tooth Disease Pediatric Scale

  9. PROM (Patient Reported Outcomes Measures) : pCMT-QoL

    Time frame: Between inclusion (month 0), month 6, and one year later (month12)

    Pediatrics CMT Questionnaire of Life

  10. PROM (Patient Reported Outcomes Measures) : VAS

    Time frame: Between inclusion (month 0), month 6, and one year later (month 12)

    Visual Analog Scale

  11. PROM (Patient Reported Outcomes Measures) : WALK-12

    Time frame: Between inclusion (month 0), month 6, and one year later (month 12)

  12. PROM (Patient Reported Outcomes Measures) : PGI-c

    Time frame: Between inclusion (month), month 6, and one year later (month 12)

    Patient's Global Impression of change scale

  13. PROM (Patient Reported Outcomes Measures) : SF-12

    Time frame: Between inclusion (month 0), month 6, and one year later (month12)

Study contacts

Contact information is provided by the study sponsor or research team.

Etienne FORTANIER, MD

CONTACT

[email protected]

04 91 38 65 79 ext. +33

Shahram ATTARIAN, PU-PH

CONTACT

[email protected]

04 91 38 65 79 ext. +33

Sponsors and collaborators

Lead sponsor

Assistance Publique Hopitaux De Marseille

Other

Collaborators

  • Association Française contre les Myopathies (AFM), Paris
  • University Medical Center Göttingen

Registry information

Official study title

A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)

Acronym: CMT-MODS

Important dates

Study start
2025
Primary completion
2027
Study completion
2028
First posted
Jul 3, 2025
Registry last updated
Jul 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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