AUTONOMOUS DISORDERS IN CMT

NCT07570446 | Recruiting

• 1 other identifier: 17/05/2024_C2
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

CMT - Charcot-Marie-Tooth Disease; CMT1A; CMT (Charcot Marie Tooth Disease)

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (3)

• muscle strength

  baseline

• neurography

  baseline

• nerve sonography

  at visit

Study Arms (2)

CMT patients

Controls

Healthy age-matched controls

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• Pregnancy or breastfeeding period
• Other relevant neurological or psychiatric disorders, acute or in the past history
• Presence of a serious previous internal disease

Sponsors & Collaborators

• University Medical Center Goettingen: lead

Study Sites (1)

University Medical Centre

Göttingen, Lower Saxony, 37075, Germany

RECRUITING

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Michael W Sereda, Prof. MD

CONTACT

+49 551 3964162; sereda@mpinat.mpg.de

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Michael Sereda MD

Study Record Dates

• First Submitted: April 9, 2026
• First Posted: May 6, 2026
• Study Start: July 30, 2024
• Primary Completion (Estimated): July 5, 2026
• Study Completion (Estimated): July 30, 2026
• Last Updated: May 6, 2026

Record last verified: 2026-04

Locations

DE (1)