Ignite Creation Date:
2025-12-24 @ 6:35 PM
Ignite Modification Date:
2025-12-26 @ 7:20 PM
Study NCT ID:
NCT06001957
Status:
COMPLETED
Last Update Posted:
2023-08-21
First Post:
2023-08-15
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Whole Exome Sequencing in Coronary Artery Ectasia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003323', 'term': 'Coronary Aneurysm'}], 'ancestors': [{'id': 'D003327', 'term': 'Coronary Disease'}, {'id': 'D017202', 'term': 'Myocardial Ischemia'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D000783', 'term': 'Aneurysm'}, {'id': 'D014652', 'term': 'Vascular Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D059472', 'term': 'Exome'}, {'id': 'D005820', 'term': 'Genetic Testing'}], 'ancestors': [{'id': 'D016678', 'term': 'Genome'}, {'id': 'D040342', 'term': 'Genetic Structures'}, {'id': 'D055614', 'term': 'Genetic Phenomena'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'DNA from proband was obtained from peripheral blood and extracted using standard protocols.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 1}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2022-03-23', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-08', 'completionDateStruct': {'date': '2023-08-15', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-08-18', 'studyFirstSubmitDate': '2023-08-15', 'studyFirstSubmitQcDate': '2023-08-18', 'lastUpdatePostDateStruct': {'date': '2023-08-21', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-08-21', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-06-11', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'The novel pathogenic mutations associated with CAE development', 'timeFrame': 'Until June 11, 2023', 'description': 'Reads of WES will be aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Coronary ectasia', 'Coronary aneurysm', 'Whole exome sequencing', 'Mutations'], 'conditions': ['Coronary Ectasia', 'Coronary Aneurysm']}, 'descriptionModule': {'briefSummary': '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.\n\nThe main question it aims to answer are:\n\n* the assessment of role of WES in CAE\n* the detection of novel pathogenic mutations associated with CAE development', 'detailedDescription': '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.\n\nThe most common etiology of CAAE is atherosclerosis, followed by Kawasaki disease, infectious septic emboli, connective tissue disease and arteritis. Iatrogenic causes are less common.\n\nThere 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.\n\nTherefore, 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patient with extremely giant coronary artery ectasia (CAE) and positive family history.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* diagnosed giant coronary artery aneurysm and ectasia (CAAE)\n* high risk of genetic background\n\nExclusion Criteria:\n\n* the lack of informed consent for whole exome sequencing (WES) analysis'}, 'identificationModule': {'nctId': 'NCT06001957', 'briefTitle': 'Whole Exome Sequencing in Coronary Artery Ectasia', 'organization': {'class': 'OTHER', 'fullName': 'Jagiellonian University'}, 'officialTitle': 'Genetic Background Assessment With Whole Exome Sequencing in a Giant Coronary Artery Ectasia: a Pilot Study.', 'orgStudyIdInfo': {'id': '1072.6120.49.2022'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Proband', 'description': 'Patient with extremely giant coronary artery ectasia (CAE) and positive family history', 'interventionNames': ['Diagnostic Test: Whole exome sequencing']}], 'interventions': [{'name': 'Whole exome sequencing', 'type': 'DIAGNOSTIC_TEST', 'otherNames': ['Genetic analysis'], 'description': 'Bioinformatic analysis of raw WES data and variants prioritization were performed as previously described.\n\nReads were aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.', 'armGroupLabels': ['Proband']}]}, 'contactsLocationsModule': {'locations': [{'zip': '31-202', 'city': 'Krakow', 'country': 'Poland', 'facility': 'Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College', 'geoPoint': {'lat': 50.06143, 'lon': 19.93658}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Jagiellonian University', 'class': 'OTHER'}, 'collaborators': [{'name': 'Medical University of Warsaw', 'class': 'OTHER'}, {'name': 'Poznan University of Medical Sciences', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator, MD, Assistant', 'investigatorFullName': 'Konrad Stępień', 'investigatorAffiliation': 'Jagiellonian University'}}}}