The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 5
- 试验地点
- 1
- 主要终点
- Number of LDLR Gene Mutations
研究概览
简要总结
Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.
详细描述
To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies:
- To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees);
- To detect gene mutations known to cause FH and identify family suitable for future whole genome sequencing aimed to identify novel genes controlling cholesterol levels.
3.To establish the relationship between types of gene mutations and lipid and atherosclerosis profile, as well as responses to lipid-lowering agents.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Number of LDLR Gene Mutations
时间窗: 1 year
Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes. c.796 G\>C and c.1048 C\>T in the LDLR gene c.1448 G\>A and c.1720C\>A in the LDLR gene c.2030 G \>A and c.1257 C\>A in the LDLR gene homozygous mutation c.605 T\>C in the LDLR gene
次要结局
- LDL-C Reduction Percentage(pre-treatment and 6-13 years post treatment)
研究者
Shuiping Zhao
Chief of Cardiology Department, 2nd Xiangya Hospital
Central South University