Whole Exome Sequencing in Coronary Artery Ectasia

August 18, 2023 updated by: Konrad Stępień, Jagiellonian University

Genetic Background Assessment With Whole Exome Sequencing in a Giant Coronary Artery Ectasia: a Pilot Study.

The goal of this observational study is to assess the role of the whole exome sequencing (WES) application in patients with giant coronary artery ectasia (CAE) with a high-risk of genetic background.

The main question it aims to answer are:

  • the assessment of role of WES in CAE
  • the detection of novel pathogenic mutations associated with CAE development

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

Coronary artery aneurysm and ectasia (CAAE) is defined as a dilation of the coronary artery by at least 1.5 times compared to the adjacent segment. The incidence of CAAE is reported in 0.3-5.3% of patients undergoing coronary angiography. Giant CAAE is a rare phenomenon characterized by a dilation of a coronary artery exceeding 2 to 4 centimeters and it was found only in 0.02% of patients undergoing coronary angiography.

The most common etiology of CAAE is atherosclerosis, followed by Kawasaki disease, infectious septic emboli, connective tissue disease and arteritis. Iatrogenic causes are less common.

There are few genetic reports on potential loci associated with CAAE. Meta-analysis of genome wide association studies performed in European and Japanese population of children with Kawasaki disease has identified ITPKC, FCGR2A, CASP3 and FAM167A genomic regions to be associated with susceptibility to develop CAAE. Furthermore, 9p21 variant has been linked with coexistence of coronary artery disease, cerebral artery aneurysms and aortic aneurysms, mainly due to suspected potential adverse vascular remodeling. Nevertheless, the direct association of specific genetic variants with CAAE formation, especially with those giants, has not been proven.

Therefore, the investigators aim to assess the role of the whole exome sequencing (WES) application in patients with giant coronary artery ectasia (CAE) with a high-risk of genetic background.

Study Type

Observational

Enrollment (Actual)

1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Poland
      • Kraków, Poland, 31-202
        • Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patient with extremely giant coronary artery ectasia (CAE) and positive family history.

Description

Inclusion Criteria:

  • diagnosed giant coronary artery aneurysm and ectasia (CAAE)
  • high risk of genetic background

Exclusion Criteria:

  • the lack of informed consent for whole exome sequencing (WES) analysis

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Proband
Patient with extremely giant coronary artery ectasia (CAE) and positive family history
Diagnostic test: Whole exome sequencing

Bioinformatic analysis of raw WES data and variants prioritization were performed as previously described.

Reads were aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.

Other Names:
  • Genetic analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The novel pathogenic mutations associated with CAE development
Time Frame: Until June 11, 2023
Reads of WES will be aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.
Until June 11, 2023

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Jagiellonian University

Collaborators

Poznan University of Medical Sciences
Medical University of Warsaw

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 23, 2022

Primary Completion (Actual)

June 11, 2023

Study Completion (Actual)

August 15, 2023

Study Registration Dates

First Submitted

August 15, 2023

First Submitted That Met QC Criteria

August 18, 2023

First Posted (Actual)

August 21, 2023

Study Record Updates

Last Update Posted (Actual)

August 21, 2023

Last Update Submitted That Met QC Criteria

August 18, 2023

Last Verified

August 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1072.6120.49.2022

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Coronary Aneurysm

Clinical Trials on Whole exome sequencing

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Venezuela

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe