PLIN1 Variants in Precocious ACS (SCAPLIN)

• Sponsor: Assistance Publique Hopitaux De Marseille (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT04904432
• Collaborator: (none)
• Enrollment: 200
• Location: 1
• Arm: 1
• Anticipated Duration (Months): 32.5
• Patients Per Site Per Month: 6.1

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Acute Coronary Syndrome	Genetic: PLIN1 gene sequencing	N/A

Study Design

• Study Type: Interventional
• Anticipated Enrollment: 200 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Prevention
• Official Title: Involvement of Perilipin-1 Variants in Precocious Acute Coronary Syndrome
• Actual Study Start Date: Sep 15, 2021
• Anticipated Primary Completion Date: Jun 1, 2023
• Anticipated Study Completion Date: Jun 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
Other: young ACS patients	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

Outcome Measures

Primary Outcome Measures

1. PLIN1 mutation [1 month]

   sequencing PLIN1 gene to look for mutation

2. Lipid droplets [3 years]

   Analyze size of lipid droplets in differentiated hIPS cells

Secondary Outcome Measures

1. relapse rate [1 year]

   Ischaemic relapse rate during the year of classical following-up

Eligibility Criteria

Criteria

• Ages Eligible for Study: 10 Years to 55 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Assistance Publique Hôpitaux de Marseille	Marseille		France	13005

Sponsors and Collaborators

• Assistance Publique Hopitaux De Marseille

Investigators

• Study Director: Emilie GARRIDO-PRADALIE, Assistance Publique Hôpitaux de Marseille

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Assistance Publique Hopitaux De Marseille
• ClinicalTrials.gov Identifier: NCT04904432
• Other Study ID Numbers: 2021-06
• First Posted: May 27, 2021
• Last Update Posted: Oct 7, 2021
• Last Verified: Oct 1, 2021

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Acute Coronary Syndrome; Syndrome

Study Results

No Results Posted as of Oct 7, 2021