A Registered Cohort Study on Charcot-Marie-Tooth Disease

NCT04010188 | Recruiting

• 1 other identifier: MRCTA,ECFAH of FMU [2019] 192
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Charcot-Marie-Tooth Disease

Outcome Measures

Primary Outcomes (1)

• 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.

  Up to 6 months

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

CMT patients who are diagnosed in the First Affiliated Hospital of Fujian Medical University.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Ning Wang, MD., PhD.: lead

Study Sites (1)

First Affiliated Hospital of Fujian Medical University

Fuzhou, China

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

Ning Wang, MD, PhD

CONTACT

13805015340; ningwang@fjmu.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: July 4, 2019
• First Posted: July 8, 2019
• Study Start: July 1, 2019
• Primary Completion (Estimated): December 31, 2039
• Study Completion (Estimated): December 31, 2049
• Last Updated: January 11, 2022

Record last verified: 2022-01

Locations

CN (1)