About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Patients with the clinical diagnosis of Charcot-Marie-Tooth disease
Genetic diagnosis of patients with Charcot-Marie-Tooth disease
Unrelated healthy controls
Disqualifiers
Decline to participate.
Other peripheral neuropathy caused by trauma, immunity and toxicosis.
Trial population
CMT patients who are diagnosed in the First Affiliated Hospital of Fujian Medical University.
Trial design
Cohort
Prospective
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
The change of Charcot-Marie-Tooth Neuropathy Score (CMTNS) during 6 month
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.
Sponsors and contacts
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Ning Wang, MD., PhD.
Lead sponsor
First Affiliated Hospital of Fujian Medical University
Sponsor institution