Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan
试验速览
- 阶段
- 不适用
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Describe the correlation of genotype and phenotype in SMA types 2 and 3
研究概览
简要总结
The primary objective of this study is to investigate the natural history of spinal muscular atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into the clinical course SMA. Several analyses will be conducted regarding overall survival, demographic characteristics, motor function, respiratory and nutritional support, and genotype and phenotype correlation.
详细描述
As with other rare diseases, individual groups of SMA have therefore opted to share patient information in the form of clinical sites to increase the overall patient cohorts on which clinical outcomes and new assisted-healthcare technologies can be assessed. Using the collaborative and retrospective study of types 2 and 3 SMA patients in Taiwan, the investigators aim to 1) characterize the correlation of genotype and phenotype, 2) correlate the onset, progression, management with disease outcome, 3) depict comorbidity and within type 2 and 3 SMA patients with different SMN2 copy number.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 6 Months 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients are diagnosed with SMA types 2 or 3
- •Generalized hypotonia and muscle weakness, weakness of the legs is greater than the arms, and the proximal part is weaker than distal part of extremities.
- •SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.
排除标准
- •Non-5q SMA (no deletion or mutation of SMN1 gene) patients.
- •Type 1 SMA patients.
结局指标
主要结局
Describe the correlation of genotype and phenotype in SMA types 2 and 3
时间窗: through study completion, an average of 2 years
Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.
次要结局
- Disease mortality in patients with SMA types 2 and 3(through study completion, an average of 2 years)
- Disease onset in patients with SMA types 2 and 3(through study completion, an average of 2 years)
- Scoliosis in patients with SMA types 2 and 3(through study completion, an average of 2 years)
- BiPAP usage in patients with SMA types 2 and 3(through study completion, an average of 2 years)