Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 114
- 试验地点
- 1
- 主要终点
- Cholesterol level blood test
研究概览
简要总结
The purpose of the study is to determine whether carrier status for any type of glycogen storage disease (GSD) predisposes the carrier to GSD markers, like high cholesterol, by testing blood, urine, and saliva samples.
详细描述
Subjects will be asked to contribute about a teaspoon of blood, 1 oz of urine, and 2 tablespoons of saliva samples in the morning before they have had anything to eat. The blood and urine samples will be tested for the markers of GSD, while the saliva sample will be used for genetic testing. Subjects' height and weight will also be measured.
Subjects will also be asked to fill out a questionnaire about symptoms common to full GSD expression that they may have experienced, as well as if they are currently on any medication to control their cholesterol.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •parents and other family members of patients undergoing treatment for GSD at the University of Florida
排除标准
- •pregnant females
结局指标
主要结局
Cholesterol level blood test
时间窗: 1 day
Blood test will be performed on all groups to measure markers of glycogen storage disease.
次要结局
- Comprehensive metabolic panel blood test(1 day)
- Lipid panel blood test(1 day)
- Uric acid level blood test(1 day)
- Creatine kinase (CK) level blood test(1 day)
- C-reactive protein (CRP) level blood test(1 day)
- Calcium level urine test(1 day)
- Citrate level urine test(1 day)
- Creatinine level urine test(1 day)
- Microalbumin level urine test(1 day)
- Oxalate level urine test(1 day)
- Uric acid level urine test(1 day)
- Prealbumin blood test(1 day)
- Hemoglobin A1C blood test(1 day)