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

NCT07049588 | Recruiting

• 2 other identifiers: RCAPHM24_03812024-A02403-44
• Study Type: interventional
• Target: 55
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Charcot-Marie-Tooth Disease Type 1A

Keywords

CMT1A; Fat Fraction; CMT Examination Score Rasch; CMT Functional Outcome Measure; Skin Biopsy; histological markers; MRI muscle

Outcome Measures

Primary Outcomes (2)

• Transcriptomic analysis

  RNA seq on blood and skin tissues

  Between inclusion (month 0) and one year later (month 12)

• Proteomic analysis

  Label-free quantitative approach on blood and skin tissues

  Between inclusion (month 0) and one year later (month 12)

Secondary Outcomes (13)

• MRI muscle biomarkers : Fat Fraction measure

  Between inclusion (month 0) and one year later (month12)

• MRI muscle biomarkers : Magnetization Transfer Ratio

  Between inclusion (month 0) and one year later (month12)

• MRI muscle biomarkers : T2 relaxation time

  Between inclusion (month 0) and one year later (month12)

• MRI muscle biomarkers : muscle volume

  Between inclusion (month 0) and one year later (month12)

• Clinical score : ONLS

  Between inclusion (month 0) and one year later (month12)

Study Arms (2)

Charcot-Marie-Tooth Neuropathy 1A

OTHER

Patient with genetically confirmed CMT1A or with a parent whose diagnosis is genetically confirmed,

Other: Quantitative neuromuscular MRI; Other: Skin biopsy; Other: Clinical scores; Other: Blood test; Other: Patient Report Outcomes Measures

Healthy volunteers

OTHER

Patient-matched controls

Other: Quantitative neuromuscular MRI; Other: Skin biopsy; Other: Clinical scores; Other: Blood test

Interventions

Quantitative neuromuscular MRI OTHER

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

Charcot-Marie-Tooth Neuropathy 1A; Healthy volunteers

Skin biopsy OTHER

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

Charcot-Marie-Tooth Neuropathy 1A; Healthy volunteers

Clinical scores OTHER

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

Charcot-Marie-Tooth Neuropathy 1A; Healthy volunteers

Blood test OTHER

10 ml sample

Charcot-Marie-Tooth Neuropathy 1A; Healthy volunteers

Patient Report Outcomes Measures OTHER

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

Charcot-Marie-Tooth Neuropathy 1A

Eligibility Criteria

• Age: 10 Years - 30 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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
• 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

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead
• Association Française contre les Myopathies (AFM), Paris: collaborator
• University Medical Center Göttingen: collaborator

Study Sites (1)

Assistance Publique - Hôpitaux de Marseille

Marseille, 13005, France

RECRUITING

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Interventions

Hematologic Tests

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• François CREMIEUX

  Assistance Publique - Hôpitaux de Marseille

  STUDY DIRECTOR

Central Study Contacts

Shahram ATTARIAN, PU-PH

CONTACT

04 91 38 65 79; shahram.attarian@ap-hm.fr

Etienne FORTANIER, MD

CONTACT

04 91 38 65 79; etienne.fortanier@ap-hm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Comparison of patient and healthy volunteers data at inclusion (M0) and 12 months (M12)

Study Record Dates

• First Submitted: June 13, 2025
• First Posted: July 3, 2025
• Study Start: June 24, 2025
• Primary Completion (Estimated): June 24, 2027
• Study Completion (Estimated): June 24, 2028
• Last Updated: July 3, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)