Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 111
- 主要终点
- Age of death
研究概览
简要总结
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene.
The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.
详细描述
The primary objective of this study is to investigate the natural history of patients with spinal muscular atrophy (SMA) type 1 in Taiwan. This study will provide further insights into the clinical course and pathogenesis of SMA. Several analyses will be conducted regarding overall survival, respiratory support, feeding and nutritional support. The following outcome variables will be examined: correlation between SMA genotype and phenotype, survival, age of onset, and age of confirmed diagnosis, proportion of patients using non-invasive and invasive respiratory support, time to first use of respiratory support, proportion of patients on permanent ventilation, and time to permanent ventilation, number and average duration of hospitalizations, proportion of patients with gastrostomy, number of non-serious and serious respiratory infections, trend of growth parameter (e.g., body weight).
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 36 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Jan. 1979~ 30 Jun. 2014 diagnosed with Spinal Muscular Atrophy (SMA)Type 1
- •Onset of paralytic floppy infant less than 6 months of age
- •Generalized hypotonia and symmetric weakness, which weakness is more severe in proximal than distal part of extremities
- •Weakness in the legs is greater than in the arms
- •Tendon reflexes are absent
- •Neurogenic changes in electromyogram and/or muscle pathology
- •SMN1 gene deletion or mutation
排除标准
- •Non-5q SMA (no deletion or mutation of SMN1 gene)
- •SMA type 2, type 3 or type 4 (onset of SMA after 6 months of age)
结局指标
主要结局
Age of death
时间窗: up to 36 years
participants will be followed till the age of death
次要结局
- Age of permanent ventilation(up to 36 years)