AUTONOMOUS DISORDERS IN CMT (CMT-autonom)

Hereditary neuropathies are a phenotypically and genetically heterogeneous group of disorders. One of the most common forms is Charcot-Marie-Tooth neuropathy (CMT), which can be further divided into demyelinating (CMT1) and axonal (CMT2) neuropathies, as well as various pathogenic genetic variants. In addition to the clinically predominant motor and sensory deficits, symptoms of the autonomic nervous system have also been described in patients with CMT, often leading to significant limitations in daily functioning and quality of life. However, little is known about the prevalence and extent of autonomic dysfunction in CMT patients.

In this study, patients with CMT will be assessed for the presence, severity, and characteristics of autonomic dysfunction using questionnaires and non-invasive diagnostic methods. Furthermore, diagnosis, genotype, and individual disease data-such as disease duration, severity of neurological impairment, and comorbidities-will be collected from patient records.

The aim of this study is to evaluate and characterize autonomic dysfunction in patients with CMT. It seeks to determine how frequently autonomic dysfunction occurs in CMT, which areas of the autonomic nervous system are most commonly affected, whether risk factors exist, and what differences can be observed between the various CMT subtypes. The findings of this study are expected to provide new insights into the role of autonomic dysfunction in CMT, ultimately contributing to improved care and treatment for affected patients.

Study Overview

• Status: Recruiting
• Conditions: CMT - Charcot-Marie-Tooth Disease; CMT1A; CMT (Charcot Marie Tooth Disease)

• Study Type: Observational
• Enrollment (Estimated): 50

Contacts and Locations

• Study Contact: Name: Michael W Sereda, Prof. MD; Phone Number: +49 551 3964162; Email: sereda@mpinat.mpg.de

Study Locations

• Germany
  • Lower Saxony
    • Göttingen, Lower Saxony, Germany, 37075
      • Recruiting
      • University Medical Centre
      • Contact: Sandrin Plewe; Phone Number: +49 551 3964162; Email: sandrin.plewe@med.uni-goettingen.de

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

Participants from the Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) study (ClinicalTrials.gov ID NCT03386266)

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
CMT patients
Controls; Healthy age-matched controls

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
COMPASS 31	validated questionaire	baseline
electrophysiological measurement	Validated electrophysiological examinations including the sympathetic skin reflex, the Schellong test, and heart rate variability measurement	baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
muscle strength		baseline
neurography	Examinations measuring the electrical activity and conductivity of nerves, which are used to diagnose nerve damage or diseases.	baseline
nerve sonography		at visit

Collaborators and Investigators

• Sponsor: University Medical Center Goettingen

Study record dates

Study Major Dates

• Study Start (Actual): July 30, 2024
• Primary Completion (Estimated): July 5, 2026
• Study Completion (Estimated): July 30, 2026

Study Registration Dates

• First Submitted: April 9, 2026
• First Submitted That Met QC Criteria: April 29, 2026
• First Posted (Actual): May 6, 2026

Study Record Updates

• Last Update Posted (Actual): May 6, 2026
• Last Update Submitted That Met QC Criteria: April 29, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Hereditary Sensory and Motor Neuropathy; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Charcot-Marie-Tooth Disease
• Other Study ID Numbers: 17/05/2024_C2

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No