A Registered Cohort Study on Spinal Muscular Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 2,000
- 试验地点
- 1
- 主要终点
- The time to death
研究概览
简要总结
Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Week 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients with SMA types I, II and III
- •Asymptomatic SMA carriers
- •Relatives of SMA patients or carriers
- •Unrelated healthy controls
- •Participants or Parent(s)/legal guardian(s) willing and able to complete the informed consent process
排除标准
- •* Participants are unable to comply with trial procedures and visit schedule
结局指标
主要结局
The time to death
时间窗: From date of enrollment until the date of death from any cause, assessed up to 20years
The correlation of genotype and phenotype
时间窗: From date of enrollment until the date of death from any cause, assessed up to 20years
Genotype is defined by survival motor neuron (SMN) 2 copy number(s) and phenotype is defined by clinical types and characteristics.
次要结局
未报告次要终点
研究者
Wan-Jin Chen
The Vice-Director for the Department of Neurology
First Affiliated Hospital of Fujian Medical University