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PLIN1 Variants in Precocious ACS (SCAPLIN)

NCT04904432 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 200

Last updated 2022-10-27

No results posted yet for this study

Summary

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.

Conditions

  • Acute Coronary Syndrome

Interventions

GENETIC

PLIN1 gene sequencing

One supplementary blood sample will be taken (compare to classical ACS treatment and follow up) to realize genetic analyse of PLIN1 gene, looking for mutations

Sponsors & Collaborators

  • Assistance Publique Hopitaux De Marseille

    lead OTHER

Principal Investigators

  • Emilie GARRIDO-PRADALIE · Assistance Publique Hôpitaux de Marseille

Study Design

Allocation
NA
Purpose
PREVENTION
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
10 Years
Max Age
55 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-09-15
Primary Completion
2023-06-01
Completion
2024-06-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04904432 on ClinicalTrials.gov