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Clinical Trials in Germany / NCT06794489
Recruiting Observational

Longitudinal Biomarkers With Selected Outcome Measures In CMT

NCT06794489 · tracked via the Priya Life Science Germany tracker
Sponsor
University Medical Center Goettingen
Phase
Observational
Started
2024-11-06
Last updated
2026-03-09

Condition(s) studied

CMT1ACMT (Charcot Marie Tooth Disease)CMT 1ACMT - Charcot-Marie-Tooth Disease

Study summary

The goal of this study is to better understand the progression of CMT1A and identify risk factors influencing disease course. CMT1A, the most common hereditary peripheral neuropathy, shows high variability in individual phenotypes despite genetic similarity. Key objectives include analyzing determinants of phenotypic expression and documenting symptom variability over five years to capture disease dynamics.

Although incurable, novel CMT therapies are in development. Proving efficacy is challenging due to slow progression and limited sensitive outcome measures. This study aims to validate biomarkers (DNA/epigenetics and RNA/RT-PCR) and sensitive outcome measures from blood and skin of CMT patients over five years to support clinical therapy trials. Approximately 25 healthy volunteers will serve as controls, providing blood and skin samples for biomarker validation.

Additionally, the project will build a tissue collection (skin, blood, and cultured fibroblasts) from CMT patients of various subtypes for unrestricted scientific research, especially for the German CMT-NET network (NCT03386266). Scientific partners have free access to samples and data for research (commercial use is excluded). Currently, this collection includes over 100 standardized skin biopsies from CMT1A patients and is Germany's only repository for hereditary neuropathy tissue samples.

Eligibility

Sex
ALL
Min age
18 Years
Max age
65 Years
Healthy volunteers
Accepted
Inclusion Criteria: * Clinical CMT Diagnosis / Anamnestically Healthy Control Group * Genetic confirmation of CMT in adult patients * Ability to achieve the outcome measure at baseline * Age between 18 and 65 years * Capacity of all study participants to consent and signed informed consent, including patient or participant information and consent form Exclusion Criteria: * Pregnancy or breastfeeding period * Other relevant neurological or psychiatric disorders, acute or in the past history * Presence of a serious previous internal disease

Primary outcome measure(s)

  • CMTNSv2, CMTNsv2-R — Change from baseline at the first timepoint of the CMT-NET biomarker study (NCT03386266) 2016/2019 to the end of the current study 2024/2025 (in total 8-9 years).
    CMTNSv2 A validated composite scale that considers sensory and motor symptoms of both upper and lower extremities, as well as the ulnar nerve compound muscle action potential (CMAP) and sensory action potential (SAP) amplitudes. Version 2 of the CMT-NS has been newly designed to address various limitations of the original CMT-NS. CMTNSv2-R (Rasch) A modified version of CMTNSv2 using Rasch analysis to transform data into a linear measurement scale. This enables more accurate and precise quantification of functional limitations in CMT patients compared to the traditional CMTS.

Trial sites (1)

FacilityCityRegionStatus
University Medical Centre Göttingen Lower Saxony Recruiting

More University Medical Center Goettingen trials in Germany

Prospective Exploratory Cohort Study on Ganglion Cell Degeneration in Retinitis Pigmentosa Patients Enrolling by invitation
Improving Dental Care for Patients With Head and Neck Tumors Recruiting
TREMOR IN CHARCOT-MARIE-TOOTH Recruiting
FINancial Toxicity and CAncer REcovery in YOUNG Adults Enrolling by invitation
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A) Recruiting

Other trials for the same condition

TREMOR IN CHARCOT-MARIE-TOOTH Recruiting
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A) Recruiting
AUTONOMOUS DISORDERS IN CMT Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06794489 on ClinicalTrials.gov ↗ ← All trials in Germany