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临床试验/NCT04904432
NCT04904432招募中不适用

Involvement of Perilipin-1 Variants in Precocious Acute Coronary Syndrome

Assistance Publique Hopitaux De Marseille2 个研究点 分布在 1 个国家目标入组 200 人开始时间: 2021年9月15日最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
入组人数
200
试验地点
2
主要终点
PLIN1 mutation

研究概览

简要总结

This study aims to identify a genetic predisposition factor of precocious acute coronary syndrome occurrence (ACS). ACS is a major public health problem and the first cause of mortality in the world. It can be due to several risk factor such as heredity. the investigators make the hypothesis that occurrence of early ACS (defined as <50yo for men and <55yo for women) could be the initiatory event of a mild form of genetic lipodystrophy . Our previous study shown an occurrence risk of ACS about 8.3 in patients carrying a mutation in the PLIN1 gene versus patients without a mutation. The PLIN1 gene encode for perilipin 1 protein localized on the lipid droplet surface. This protein phosphorylation activates the triglycerides lipolysis. Our goals in this study are multiple: to validate the high frequency of mutations in this gene in patients with early ACS, to determine differences in triglycerides metabolism and also relapse rate between carrier and non-carrier patients of mutation in PLIN1. Our first aim will be to carry out the inclusion of 200 patients with precocious ACS. This will allow us to obtain around 15 patients carrying a mutation in the PLIN1 gene based on our previous study. the investigators will reprogramme patients' cells (carrying or not a PLIN1 mutation) in human Induce Pluripotent Stem cells (hIPSc). These hIPSc will be differentiated in cell types of interest as adipocytes or macrophages. the investigators will then study triglycerides metabolism (lipid droplet formation, localization and phosphorylation of perlipin 1) in these cells and atheroma plaque formation. Finally, the investigators will study clinical data such as relapse rate and searching for correlation with PLIN1 mutation.

研究设计

研究类型
Interventional
分配方式
Na
干预模型
Single Group
主要目的
Prevention
盲法
None

入排标准

年龄范围
10 Years 至 55 Years(Child, Adult)
性别
All
接受健康志愿者

入选标准

  • Age of the patient when ACS occurs (between 18 and 50yo for men, between 18 and 55yo for women)
  • Written informed consent

排除标准

  • Men <18yo or >50yo
  • Women <18yo or >55yo
  • ACS causes (toxic, coronary dissection)
  • Congenital cardiac malformations
  • Familial hypercholesterolaemia
  • Pregnancy, breast-feeding women or vulnerable profile.
  • Patient refusal to participate or previously included in a clinical research trial.

结局指标

主要结局

PLIN1 mutation

时间窗: 1 month

sequencing PLIN1 gene to look for mutation

Lipid droplets

时间窗: 3 years

Analyze size of lipid droplets in differentiated hIPS cells

次要结局

  • relapse rate(1 year)

研究者

申办方类型
Other
责任方
Sponsor

研究点 (2)

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