Study of Biomarkers and Disease Progression in Adults with CMT1A Over Five Years

What this Trial Is About

Researchers are investigating the progression of Charcot-Marie-Tooth disease type 1A CMT1A, the most common hereditary peripheral neuropathy, to better understand the variation in symptoms despite genetic similarities among patients. The study aims to identify risk factors that influence disease course and to analyze how symptoms change over five years. Since CMT1A progresses slowly and current measures to track it have limitations, this research also focuses on validating new biomarkers from blood and skin samples to improve future clinical trials and therapy assessments. Participants include adults diagnosed with CMT1A and healthy volunteers who provide blood and skin samples for comparison. The study collects tissue samples such as skin, blood, and cultured fibroblasts for extensive molecular and genetic analysis. This tissue bank supports research within the German CMT-NET network, allowing free access to samples for scientific studies. The study observes participants clinical symptoms, gene expression, and epigenetic markers over multiple visits, aiming to refine sensitive outcome measures and disease monitoring tools. Throughout the study, participants will have their disease severity and symptoms assessed using clinical scores like the CMT Neuropathy Score CMTNSv2 and other functional tests. Data collection includes questionnaires, physical and electrophysiological examinations, and molecular analyses of tissue samples. The study duration spans several years, tracking changes from previous assessments starting in 20162019 up to 20242025. The research will help improve diagnosis and monitoring of CMT1A, supporting individualized treatment approaches in the future.

Longitudinal Biomarkers With Selected Outcome Measures In CMT