A Registered Cohort Study on Charcot-Marie-Tooth Disease

The aim of the study is to analyze the natural history data data from Charcot-Marie-Tooth disease and related disorders in China, to assess the clinical, genetic, epigenetic features of patients with Charcot-Marie-Tooth disease, and to optimize clinical management.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Sex eligibility

All sexes

Study type

Observational

Primary location

First Affiliated Hospital of Fujian Medical University

Fuzhou, China

Location status: Recruiting

Location contact

Jin He, MD

CONTACT

[email protected]

Jin He, MD

SUB_INVESTIGATOR

Ning Wang, MD, PhD

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients with the clinical diagnosis of Charcot-Marie-Tooth disease
Genetic diagnosis of patients with Charcot-Marie-Tooth disease
Unrelated healthy controls

Exclusion criteria

Decline to participate.
Other peripheral neuropathy caused by trauma, immunity and toxicosis.

Treatment and study plan

Primary outcomes

The change of Charcot-Marie-Tooth Neuropathy Score (CMTNS) during 6 month

Time frame: Up to 6 months

Charcot-Marie-Tooth Neuropathy Score (CMTNS) was first proposed and validated by Shy et al (Neurology, 2005). to provide a reliable measure of impairment in Charcot-Marie-Tooth (CMT). The CMTNS is composed of 9 items evaluating different functions related to the disease: 5 of impairment ('Sensory Symptoms', 'Pin Sensibility', 'Vibration', 'Strength Arms' and 'Strength Legs'), 2 of activity limitations ('Motor Symptoms Arms' and 'Motor Symptoms Legs') and 2 electrophysiological measures. Each item is scored from 0 to 4 and the total sum of the item scores provides a global measure of disease severity, with higher scores indicating worsening function.

Study contacts

Contact information is provided by the study sponsor or research team.

Ning Wang, MD, PhD

CONTACT

[email protected]

13805015340 ext. 13805015340

Sponsors and collaborators

Lead sponsor

Ning Wang, MD., PhD.

Other

Registry information

Official study title

A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease

Important dates

Study start: 2019
Primary completion: 2039
Study completion: 2049
First posted: Jul 8, 2019
Registry last updated: Jan 11, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting