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PLIN1 Variants in Precocious ACS (SCAPLIN)

Primary Purpose

Acute Coronary Syndrome

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
PLIN1 gene sequencing
Sponsored by
Assistance Publique Hopitaux De Marseille
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional prevention trial for Acute Coronary Syndrome

Eligibility Criteria

10 Years - 55 Years (Child, Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

  • Assistance Publique Hôpitaux de MarseilleRecruiting

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

young ACS patients

Arm Description

Outcomes

Primary Outcome Measures

PLIN1 mutation
sequencing PLIN1 gene to look for mutation
Lipid droplets
Analyze size of lipid droplets in differentiated hIPS cells

Secondary Outcome Measures

relapse rate
Ischaemic relapse rate during the year of classical following-up

Full Information

First Posted
April 15, 2021
Last Updated
October 26, 2022
Sponsor
Assistance Publique Hopitaux De Marseille
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1. Study Identification

Unique Protocol Identification Number
NCT04904432
Brief Title
PLIN1 Variants in Precocious ACS (SCAPLIN)
Official Title
Involvement of Perilipin-1 Variants in Precocious Acute Coronary Syndrome
Study Type
Interventional

2. Study Status

Record Verification Date
October 2022
Overall Recruitment Status
Recruiting
Study Start Date
September 15, 2021 (Actual)
Primary Completion Date
June 1, 2023 (Anticipated)
Study Completion Date
June 1, 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique Hopitaux De Marseille

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Acute Coronary Syndrome

7. Study Design

Primary Purpose
Prevention
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
200 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
young ACS patients
Arm Type
Other
Intervention Type
Genetic
Intervention Name(s)
PLIN1 gene sequencing
Intervention Description
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
Primary Outcome Measure Information:
Title
PLIN1 mutation
Description
sequencing PLIN1 gene to look for mutation
Time Frame
1 month
Title
Lipid droplets
Description
Analyze size of lipid droplets in differentiated hIPS cells
Time Frame
3 years
Secondary Outcome Measure Information:
Title
relapse rate
Description
Ischaemic relapse rate during the year of classical following-up
Time Frame
1 year

10. Eligibility

Sex
All
Minimum Age & Unit of Time
10 Years
Maximum Age & Unit of Time
55 Years
Accepts Healthy Volunteers
No
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.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Nathalie BONELLO-PALOT
Phone
04 91 38 77 87
Ext
+33
Email
nathalie.bonello@ap-hm.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Alexandra GIULIANI
Phone
04 91 38 28 70
Ext
+33
Email
Alexandra.GIULIANI@ap-hm.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Emilie GARRIDO-PRADALIE
Organizational Affiliation
Assistance Publique Hôpitaux de Marseille
Official's Role
Study Director
Facility Information:
Facility Name
Assistance Publique Hôpitaux de Marseille
City
Marseille
ZIP/Postal Code
13005
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Nathalie BONELLO-PALOT, Pharm.D, PhD
First Name & Middle Initial & Last Name & Degree
Laurent BONELLO, MD, PhD

12. IPD Sharing Statement

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PLIN1 Variants in Precocious ACS (SCAPLIN)

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