PLIN1 Variants in Precocious ACS (SCAPLIN)
Involvement of Perilipin-1 Variants in Precocious Acute Coronary Syndrome
1 other identifier
interventional
200
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started Sep 2021
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
April 15, 2021
CompletedFirst Posted
Study publicly available on registry
May 27, 2021
CompletedStudy Start
First participant enrolled
September 15, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 1, 2023
CompletedStudy Completion
Last participant's last visit for all outcomes
June 1, 2024
CompletedOctober 27, 2022
October 1, 2022
1.7 years
April 15, 2021
October 26, 2022
Conditions
Outcome Measures
Primary Outcomes (2)
PLIN1 mutation
sequencing PLIN1 gene to look for mutation
1 month
Lipid droplets
Analyze size of lipid droplets in differentiated hIPS cells
3 years
Secondary Outcomes (1)
relapse rate
1 year
Study Arms (1)
young ACS patients
OTHERInterventions
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
Eligibility Criteria
You may qualify if:
- Age of the patient when ACS occurs (between 18 and 50yo for men, between 18 and 55yo for women)
- Written informed consent
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Assistance Publique Hôpitaux de Marseille
Marseille, 13005, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Emilie GARRIDO-PRADALIE
Assistance Publique Hôpitaux de Marseille
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- PREVENTION
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 15, 2021
First Posted
May 27, 2021
Study Start
September 15, 2021
Primary Completion
June 1, 2023
Study Completion
June 1, 2024
Last Updated
October 27, 2022
Record last verified: 2022-10