CMT-MOD
French-German Research Initiative
on Novel CMT1A Biomarkers
CMT-Mod Study: Biomarkers in Charcot-Marie-Tooth Disease
CMT1A (Charcot-Marie-Tooth disease type 1A) is a hereditary neurological disorder caused by a duplication of the PMP22 gene, leading to damage of the peripheral nerves. It typically results in muscle weakness, sensory loss, and difficulty with coordination, often progressing over time.
The CMT-MOD study is a multi-omic approach including MRI to identify novel biomarkers in early Charcot-Marie-Tooth 1A disease, particularly in young patients, aged 10-30 years. This collaborative study aims to improve understanding and treatment of CMT1A.
The goal of the CMT-MOD study is to address the critical need for sensitive outcome measures and biomarkers in CMT1A, potentially leading to improved diagnosis, treatment monitoring, and development of targeted therapies for this debilitating neurological disorder.
Three Study Objectives:
The earlier CMT1A is diagnosed, the sooner the disease can be treated and its progression slowed. Therefore, the study focuses on identifying biomarkers for early detection and treatment of CMT1A.
Aim 1: Perform integrated multi-omic analysis to identify early markers of disease severity.
Aim 2: Identify novel transcriptional and qMRI biomarkers in young CMT1A patients (aged 10-30).
Aim 3: Develop a machine learning algorithm to identify CMT1A using transcriptional biomarkers from Aim1 and Aim 2.
What Are We Trying to Achieve?
1. Understanding What Influences Disease Severity:
We are studying changes in specific genes (called "transcripts") that might control how severe the symptoms of CMT1A become. By understanding these genetic changes, we hope to learn why some people have milder symptoms while others have more severe ones.
2. Developing Better Diagnostic Tools:
Using advanced imaging (qMRI) and blood tests, we want to find markers that can show how severe CMT1A is or how it may progress over time. These tools were first tested in animal studies and are now being adapted for young patients with CMT1A.
3. Improving Prediction and Monitoring:
We aim to combine these findings into a new system that can help doctors predict how the disease will develop in young patients and monitor how well treatments are working.
Information on Trial
The clinical biomarker study is a multicentric, international (2 centers: Göttingen, Germany and Marseille, France) study. No intervention is planned. We will have a patient and a control group.
Coordinating Investigators
Univ.-Prof. Dr. med. Michael W. Sereda
University Medical Centre Göttingen (UMG) Department of Neurology
Göttingen, Germany
Prof. Shahram Attarian, M.D., Ph.D.
Neuromuscular Disease and ALS Reference Center, Timone University Hospital, Aix-Marseille University
Marseille, France
No patient contact.
Study Details
Transcriptional biomarker study:
70 CMT1A patients and 40 healthy controls, 10-30 years.
qMRI biomarker study:
40 CMT1A patients and 20 healthy controls.
Duration:
12 months, with evaluations at baseline, 6 months, and 12 months.
Would you like to join our study?
Simply send us a message, and our team will reach out to guide you through the next steps.
Together, we can make a meaningful impact!
Inclusion criteria: Collaborative children, adolescents and young adults aged 10-30 years with genetic diagnosis of CMT1A, or clinical diagnosis and genetic diagnosis in affected relatives; able to walk with/ without support.
Exclusion criteria: Neuromuscular disorders other than CMT1A; concomitant disease preventing correct patient evaluation and contraindication to MRI.
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