NCT02345421终止不适用
A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations
适应症
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 640
- 主要终点
- LAL D frequency based on LAL enzyme assay.
研究概览
简要总结
The objective of this study is to determine the frequency of Lysosomal Acid Lipase Deficiency (LAL D) by lysosomal acid lipase (LAL) enzyme activity assay in patients who are considered to be at risk.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Non-obese** patients with elevated low-density lipoprotein (LDL)
- •Non-obese** patients with low high-density lipoprotein (HDL)
- •Non-obese** patients with unexplained and persistently elevated liver transaminases,
- •Non-obese** patients with hepatomegaly
- •Patients with cryptogenic cirrhosis
- •Patients with biopsy-proven microvesicular or mixed micro/macrovesicular steatosis without a known etiology
- •Patients with presumed Familial Hypercholesterolemia (FH) in which genetic analysis was performed for the genes encoding the low-density lipoprotein receptor (LDLR), Apo-B and PCSK9 genes and no disease-causing mutations were identified
- •Patients with presumed FH with unclear family history
- •Patients with autosomal recessive hypercholesterolemia (other than homozygous FH)
- •Patients with autosomal recessive low HDL of unknown etiology
- •Also, patient must meet the following:
- •Patient or patient's parent or legal guardian (if applicable) consents to participate in the study and provides informed consent prior to any study procedures being performed. If the patient is of minor age; he/she is willing to provide assent where required per local regulations, and if deemed able to do so.
- •Patient is willing and able to comply with protocol requirements.
- •Patients who do not fall into one of the aforementioned categories (cohorts) but are considered highly suspicious for LAL D should be tested to rule out the disorder outside of the study at the discretion of the Investigator.
排除标准
- •Active viral hepatitis;
- •Other confirmed genetic liver diseases (e.g., Wilson's disease, hemochromatosis, alpha 1-antitrypsin).
结局指标
主要结局
LAL D frequency based on LAL enzyme assay.
时间窗: approximately 1 month
The endpoint of this study is the frequency of LAL D in at-risk patients, based on results from the LAL enzyme assay.
次要结局
未报告次要终点
研究者
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