PLIN1 Variants in Precocious ACS (SCAPLIN)

NCT ID: NCT04904432

Last Updated: 2022-10-27

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: NA
• Total Enrollment: 200 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-09-15
• Study Completion Date: 2024-06-01

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.

Conditions

Acute Coronary Syndrome

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: PREVENTION
• Blinding Strategy: NONE

Study Groups

young ACS patients

Group Type: OTHER

PLIN1 gene sequencing

Intervention Type: GENETIC

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

Interventions

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

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• 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.

• Minimum Eligible Age: 10 Years
• Maximum Eligible Age: 55 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique Hopitaux De Marseille

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Emilie GARRIDO-PRADALIE

Role: STUDY_DIRECTOR

Assistance Publique Hôpitaux de Marseille

Locations

Assistance Publique Hôpitaux de Marseille

Marseille, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Nathalie BONELLO-PALOT

Role: CONTACT

nathalie.bonello@ap-hm.fr

04 91 38 77 87 ext. +33

Alexandra GIULIANI

Role: CONTACT

Alexandra.GIULIANI@ap-hm.fr

04 91 38 28 70 ext. +33

Facility Contacts

Nathalie BONELLO-PALOT, Pharm.D, PhD

Role: primary

Other Identifiers

2021-06

Identifier Type: -

Identifier Source: org_study_id