Coronary EctasiaNCT06001957
Whole Exome Sequencing in Coronary Artery Ectasia
An observational study of Coronary Ectasia and Coronary Aneurysm, run by Jagiellonian University at 1 site in Poland.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Coronary Ectasia, Coronary Aneurysm
- What is being tested?
- Whole exome sequencing
- How many people
- 1 participants
- Where
- 1 sitePoland
- Study dates
- 23 Mar 2022to 15 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patient with extremely giant coronary artery ectasia (CAE) and positive family history.
Who may be able to join
- diagnosed giant coronary artery aneurysm and ectasia (CAAE)
- high risk of genetic background
Who cannot join
- the lack of informed consent for whole exome sequencing (WES) analysis
Trial locations and contacts
1 site in 1 country.
Poland1 site
Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College
Krakow, 31-202
About this study
Official title: 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
Read the 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.
- Conditions
- Coronary Ectasia, Coronary Aneurysm
- Being tested
- Whole exome sequencing
- Keywords
- Coronary ectasia, Coronary aneurysm, Whole exome sequencing, Mutations
- Medical subject headings
- Coronary Aneurysm
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole exome sequencingDiagnostic test
Also called Genetic analysis
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.
| Study group | Role | What they receive |
|---|---|---|
| Proband | Patient with extremely giant coronary artery ectasia (CAE) and positive family history Receives: Diagnostic Test: Whole exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Until June 11, 2023
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Aug 2023
- Study start23 Mar 2022
- Primary completion11 Jun 2023
- Study completion15 Aug 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Coronary EctasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Jagiellonian University
- Sponsor type
- University, hospital or other
- Collaborators
- Medical University of Warsaw, Poznan University of Medical Sciences
- Responsible party
- Principal investigator, Konrad Stępień, Jagiellonian University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06001957
- Sponsor's protocol ID
- 1072.6120.49.2022
- Status last verified
- Aug 2023
- First submitted
- 15 Aug 2023
- Last updated
- 21 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Background Assessment With Whole Exome Sequencing in a Giant Coronary Artery Ectasia: a Pilot Study.
- ClinicalTrials.gov ID
- NCT06001957
- Acronym / sponsor ID
- 1072.6120.49.2022
- Conditions
- Coronary Ectasia, Coronary Aneurysm
- Keywords
- Coronary ectasia, Coronary aneurysm, Whole exome sequencing, Mutations
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Jagiellonian UniversityUniversity, hospital or other
- Collaborators
- Medical University of Warsaw, Poznan University of Medical Sciences
- Study start
- 23 Mar 2022 (actual)
- Primary completion
- 11 Jun 2023 (actual)
- Study completion
- 15 Aug 2023 (actual)
- First posted
- 21 Aug 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Proband | – | Diagnostic Test: Whole exome sequencingPatient with extremely giant coronary artery ectasia (CAE) and positive family history |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patient with extremely giant coronary artery ectasia (CAE) and positive family history.
Key inclusion criteria (2 listed)
- diagnosed giant coronary artery aneurysm and ectasia (CAAE)
- high risk of genetic background
Key exclusion criteria (1 listed)
- the lack of informed consent for whole exome sequencing (WES) analysis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole exome sequencingAlso: Genetic analysisBioinformatic 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. | Diagnostic test | Proband |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Aug 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Coronary Ectasia and Coronary Aneurysm, run by Jagiellonian University at 1 site in Poland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 21 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Poland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The novel pathogenic mutations associated with CAE development (time frame: Until June 11, 2023). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Aug 2023.