NCT01528917已完成不适用
An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 49
- 试验地点
- 16
- 主要终点
- Clinical History Summary
研究概览
简要总结
This is a Natural History study to characterize key aspects of the clinical course of late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD).
详细描述
The objective of this study is to characterize key aspects of the clinical presentation, disease phenotype and progression of patients with late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD) including, but not limited to, age of presentation, onset of hepatomegaly, progression over time of liver function, and stability of lipid abnormalities.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 5 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD) who are 5 years of age or older and have required data points in their medical record
排除标准
- •Required data points for inclusion are not available
结局指标
主要结局
Clinical History Summary
时间窗: Expected average of 15 years
Characterize patient demographic data and clinical course of disease using descriptive statistics.
次要结局
未报告次要终点
研究者
研究点 (16)
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