Whole Exome Sequencing in Coronary Artery Ectasia | NCT06001957

Studies
Whole Exome Sequencing in Coronary Artery Ectasia

NCT06001957

Sponsor

Jagiellonian University

Status

Completed

Last Update Posted

Aug 21, 2023Actual

Enrollment

1Actual

Phase

Not provided

Conditions

Coronary Ectasia
Coronary Aneurysm

Interventions

Whole exome sequencing

Countries

Poland

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2023

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 23, 2022Actual

Primary Completion Date

Jun 11, 2023Actual

Completion Date

Aug 15, 2023Actual

First Submitted Date

Aug 15, 2023

First Submission Date that Met QC Criteria

Aug 18, 2023

First Posted Date

Aug 21, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Aug 18, 2023

Last Update Posted Date

Aug 21, 2023Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Konrad Stępień, Principal Investigator, MD, Assistant, Jagiellonian UniversityPrincipal Investigator

Lead Sponsor

Jagiellonian UniversityOTHER

Collaborators

Name	Class
Medical University of Warsaw	OTHER
Poznan University of Medical Sciences	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

1Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Proband		Patient with extremely giant coronary artery ectasia (CAE) and positive family history	Diagnostic Test: Whole exome sequencing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
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.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

80 Years

Standard Ages

AdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College		Krakow		31-202	Poland

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D003323	Coronary Aneurysm

Ancestor Terms

ID	Term
D003327	Coronary Disease
D017202	Myocardial Ischemia
D006331	Heart Diseases
D002318	Cardiovascular Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D059472	Exome
D005820	Genetic Testing

Ancestor Terms

ID	Term
D016678	Genome
D040342	Genetic Structures
D055614	Genetic Phenomena
D019411	Clinical Laboratory Techniques

Browse Leaves

Not provided

Browse Branches

Not provided