Effect of Motor Development, Motor Function and Electrodiagnostic Characteristic of IOPD Under ERT
试验速览
- 阶段
- 不适用
- 入组人数
- 15
- 试验地点
- 1
- 主要终点
- Development Quotient of PDMS-II
研究概览
简要总结
To investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.
详细描述
Background
Pompe disease is an autosomal recessive disease, enzyme replacement therapy (ERT) and new born screen (NBS) had been initiated in Taiwan since 2008. However, residual muscle weakness were noted. Decrease in amplitude of nerve compound muscle action potential (CMAP) and increase spontaneous activity were reported before the imitation of ERT. However, the motor development, motor function and electrodiagnostic presentation which were important in further direction of treatment and rehabilitation program arrangement in infantile Pompe disease (IOPD) under ERT is lacking.
Aim
To investigate the motor development, motor function and electrodiagnostic presentation in IOPD under ERT.
Method
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
- 否
入选标准
- •All patients with infantile onset Pompe disease (IOPD) who were diagnosed and follow-up at Taipei Veteran General Hospital (TVGH).
排除标准
- •Patients whose guardian did not provide the inform consent.
结局指标
主要结局
Development Quotient of PDMS-II
时间窗: 1 year
Raw Score of Alberta Infant Motor Scale Development quotient of Peabody Developmental Motor Scales, Second Edition
时间窗: 1 year
次要结局
- Raw Score of Pediatric Evaluation of Disability Inventory Total score of GMFM(1 year)
- Total Score of GMFM(1 year)