Genetical Characterization of Patients Presenting With Dyslipidemia
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 5,000
- 试验地点
- 1
- 主要终点
- Genetical exploration in dyslipidemic patients
研究概览
简要总结
The mechanism of the majority of the dyslipidemia is multifactorial at the molecular level and remains elusive in more than 50% of the patients in many clinical conditions. Next generation sequencing, a booming strategy, improves the molecular diagnosis efficiency in both monogenic and polygenic dyslipidemia.
In order to decipher the mechanisms involved in the occurrence of dyslipidemia, in addition to the exploration of known candidate genes and Single Nucleotide Polymorphisms (SNP) involved in polygenic modulation, new genes involved in the regulation of lipoprotein metabolism or associated with lipids concentrations need to be sequenced in large groups of dyslipidemic patients.
The goal of this project is to gain new insight into genotype/phenotype correlation.
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
- 是
入选标准
- •patients with a family documented history of primary hypercholesterolemia, hypertriglyceridemia, hypobetalipoproteinemia, combined hypolipidemia and combined hyperlipidemia according to the European Atherosclerosis Society and/or published data.
- •patients with major secondary dyslipidemia.
排除标准
- •inability to provide written informed consent
- •lack of legal representative
结局指标
主要结局
Genetical exploration in dyslipidemic patients
时间窗: 25 years
Deoxyribonucleic Acid (DNA) sequencing will allow the study of rare gene variants and their frequency in known and new genes in patients with dyslipidemia.
次要结局
未报告次要终点