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Whole Exome Sequencing in Coronary Artery Ectasia

NCT06001957 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1

Last updated 2023-08-21

No results posted yet for this study

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

Interventions

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.

Sponsors & Collaborators

  • Medical University of Warsaw

    collaborator OTHER

  • Poznan University of Medical Sciences

    collaborator OTHER

  • Jagiellonian University

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-23
Primary Completion
2023-06-11
Completion
2023-08-15

Countries

  • Poland

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06001957 on ClinicalTrials.gov