Systematic Study of Post Herapin Lipoprotein Lipase Activity and Lipoprotein Remodelling in Multifactorial Chylomicronemia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 62
- 主要终点
- Lipoprotein Lipase concentration
研究概览
简要总结
Purpose: The mechanism of most of the multifactorial chylomicronemia (MCM) remains elusive. In order to decipher the mechanisms involved in the occurrence of this disease, plasma TG lipolysis characteristics will be monitored for 60 minutes after heparin injection instead of the 10 minutes gold standard, in a large group of genotyped MCM patients.
详细描述
Purpose: The mechanism of most of the multifactorial chylomicronemia (MCM) remains elusive. In order to decipher the mechanisms involved in the occurrence of this disease, plasma TG lipolysis characteristics will be monitored for 60 minutes after heparin injection instead of the 10 minutes gold standard, in a large group of genotyped MCM patients.
Method: LPL, APOC2, APOA5, GPIHB1and APOE genotypes will be determined for each patient. Basal lipid profiles including Apo B, CII, CIII, and lipoprotein lipase (LPL) concentration will be measured in 62 MCM patients, in addition to LPL activity (PHLA) T0, T10 T30 T60 minutes, Assessment of TG chylomicron decrease Study of lipoprotein remodelling by agarose gel electrophoresis.
Hypothesis To confirm the preliminary finding of high LPL activity in multifactorial chylomicronemia To explore the interest of a longer assessment of LPL activity following heparin injection. To establish if specific phenotypes could be identified among MCM patient supporting the hypothesis of different mechanisms involved (ie overproduction or defect in hepatic clearance)
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •patient with a documented history of MCM (Plasma TG concentration (TG) > 15 mmol/l or familial history of hypertriglyceridemia with TG >10 mmol/l)
- •no contraindication for a single heparin injection for ex vivo LPL activity assessment
排除标准
- •patients carriers of homozygous or compound heterozygous mutations on LPL, GPIHBP1, APOA5, APOC2 or APOE genes
结局指标
主要结局
Lipoprotein Lipase concentration
时间窗: 60 minutes after heparin injection
次要结局
- Total triglycerides decrease(maximum 60 minutes after heparin injection)
- Lipoprotein electrophoresis(maximum 60 minutes after heparin injection)
- Basal lipid profiles(maximum 60 min before heparin injection)