NCT07049588

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

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

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 55 (estimated)
• Sponsor: Assistance Publique Hopitaux De Marseille · Academic / Other
• Sex: All
• Age: 10 Years – 30 Years
• Healthy volunteers: Accepted

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.

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

Interventions

Type	Name	Description
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

Timeline

• Start date: 2025-06-24
• Primary completion: 2027-06-24
• Completion: 2028-06-24
• First posted: 2025-07-03
• Last updated: 2025-07-03

Locations

1 site across 1 country: France