A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 40
- 试验地点
- 14
- 主要终点
- Time to Death
研究概览
简要总结
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
详细描述
The objective of this study is to characterize key aspects of the clinical course of LAL deficiency/Wolman phenotype in patients including, but not limited to, survival and growth parameters, to serve as a historical control to inform the evaluation and care of affected patients and to provide a reference for efficacy studies of enzyme replacement or other novel therapies.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later provided they have required data points in their medical records.
排除标准
- •Patients will be excluded from the study if the required data points for inclusion are not available.
- •Living LAL deficiency/Wolman phenotype patients will be excluded
结局指标
主要结局
Time to Death
时间窗: Up to two years.
The time to death will be analyzed using Kaplan-Meier curves. Estimates (with exact 95% confidence interval \[CI\]) of the median and the lower and upper quartiles of time to death will be derived.
次要结局
未报告次要终点