Actively Recruiting
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A) (CMT-MODs)
Led by University Medical Center Goettingen · Updated on 2026-04-13
70
Participants Needed
1
Research Sites
13 weeks
Total Duration
On this page
Sponsors
U
University Medical Center Goettingen
Lead Sponsor
A
Assistance Publique Hopitaux De Marseille
Collaborating Sponsor
AI-Summary
What this Trial Is About
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited nerve disorder, caused by a gene duplication affecting nerve function. Symptoms typically begin in early childhood and progress variably, but there is currently no established treatment. This research aims to find early disease and prognostic biomarkers in young CMT1A patients by studying gene and protein changes in animal models and translating these findings to humans to better predict disease severity and progression. The study will analyze samples from young CMT1A rats at two timepoints using transcriptomic and proteomic methods to identify early markers. In parallel, children, adolescents, and young adults aged 10 to 30 with CMT1A will be followed for 12 months. Participants will undergo various clinical assessments including novel clinical outcome measures (CMTES-R, CMTNSv2-R), functional tests (CMT-FOM), nerve conduction studies, quantitative MRI, and patient-reported questionnaires about pain, fatigue, cramps, walking impact, and global change. Blood and optional skin samples will be collected to measure gene expression of promising biomarker candidates. Participants will attend study visits for clinical evaluations, imaging, nerve tests, and sample collection over a year. Researchers will measure changes in clinical scores, functional ability, quality of life, imaging results, and gene expression. Additional analyses include cultivating fibroblasts from skin biopsies for future experiments. This comprehensive approach aims to establish biomarkers for early disease severity and progression, enabling future clinical trials and treatments in young CMT1A patients.
CONDITIONS
Brief Title
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Collaborative children, adolescents, and young adults aged 10-30 years
- Genetic diagnosis of CMT1A, or clinical diagnosis with genetic diagnosis in affected relatives
- Able to walk with or without support
You will not qualify if you...
- Neuromuscular disorders other than CMT1A
- Health conditions preventing correct patient evaluation or contraindicating quantitative MRI
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants undergo baseline assessments including biopsies and imaging to identify biomarkers related to Charcot-Marie-Tooth 1A disease.
1 baseline visit (in-person)
Duration - 12 months
Participants are monitored with assessments of functional and patient-reported outcomes, imaging, and biomarker collection over 12 months.
Regular assessments over 12 months
Trial Site Locations
Total: 1 location
1
University Medical Centre
Göttingen, Germany, 37075
Actively Recruiting
Research Team
M
Michael W Sereda, Prof. of Neurology
B
Beschan Ahmad
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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