A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- The change of Charcot-Marie-Tooth Neuropathy Score (CMTNS) during 6 month
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients with the clinical diagnosis of Charcot-Marie-Tooth disease
- •Genetic diagnosis of patients with Charcot-Marie-Tooth disease
- •Unrelated healthy controls
排除标准
- •Decline to participate.
- •Other peripheral neuropathy caused by trauma, immunity and toxicosis.
结局指标
主要结局
The change of Charcot-Marie-Tooth Neuropathy Score (CMTNS) during 6 month
时间窗: 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.
次要结局
未报告次要终点
研究者
Ning Wang, MD., PhD.
Professor
First Affiliated Hospital of Fujian Medical University