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

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

Interventions

OTHER

Quantitative neuromuscular MRI

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

OTHER

Skin biopsy

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

OTHER

Clinical scores

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

OTHER

Blood test

10 ml sample

OTHER

Patient Report Outcomes Measures

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

Sponsors & Collaborators

• Association Française contre les Myopathies (AFM), Paris

  collaborator OTHER

• University Medical Center Göttingen

  collaborator UNKNOWN

• Assistance Publique Hopitaux De Marseille

  lead OTHER

Principal Investigators

• François CREMIEUX · Assistance Publique - Hôpitaux de Marseille

Study Design

Allocation

NON_RANDOMIZED

Purpose

OTHER

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

10 Years

Max Age

30 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2025-06-24

Primary Completion

2027-06-24

Completion

2028-06-24

Countries

• France

Study Locations