Whole Exome Sequencing in Coronary Artery Ectasia

NCT06001957 | Completed

• 1 other identifier: 1072.6120.49.2022
• Study Type: observational
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Coronary Ectasia; Coronary Aneurysm

Keywords

Coronary ectasia; Coronary aneurysm; Whole exome sequencing; Mutations

Outcome Measures

Primary Outcomes (1)

• The novel pathogenic mutations associated with CAE development

  Reads of WES will be aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.

  Until June 11, 2023

Study Arms (1)

Proband

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

Diagnostic Test: Whole exome sequencing

Interventions

Whole exome sequencing DIAGNOSTIC_TEST

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.

Also known as: Genetic analysis

Proband

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Jagiellonian University: lead
• Medical University of Warsaw: collaborator
• Poznan University of Medical Sciences: collaborator

Study Sites (1)

Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College

Krakow, 31-202, Poland

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA from proband was obtained from peripheral blood and extracted using standard protocols.

MeSH Terms

Conditions

Coronary Aneurysm

Interventions

Exome; Genetic Testing

Condition Hierarchy (Ancestors)

Coronary Disease; Myocardial Ischemia; Heart Diseases; Cardiovascular Diseases; Aneurysm; Vascular Diseases

Intervention Hierarchy (Ancestors)

Genome; Genetic Structures; Genetic Phenomena; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator, MD, Assistant

Study Record Dates

• First Submitted: August 15, 2023
• First Posted: August 21, 2023
• Study Start: March 23, 2022
• Primary Completion: June 11, 2023
• Study Completion: August 15, 2023
• Last Updated: August 21, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

PL (1)