Ignite Creation Date:
2025-12-24 @ 7:47 PM
Ignite Modification Date:
2026-02-21 @ 4:08 AM
Study NCT ID:
NCT06783803
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-01-20
First Post:
2025-01-14
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C562834', 'term': 'Aortic Aneurysm, Familial Thoracic 1'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D008040', 'term': 'Genetic Linkage'}], 'ancestors': [{'id': 'D055614', 'term': 'Genetic Phenomena'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole Exome Sequencing (WES) of peripheral blood of patients with FTAAD'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20}, 'targetDuration': '5 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2024-06-15', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-01', 'completionDateStruct': {'date': '2029-06', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-01-14', 'studyFirstSubmitDate': '2025-01-14', 'studyFirstSubmitQcDate': '2025-01-14', 'lastUpdatePostDateStruct': {'date': '2025-01-20', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-01-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2029-05', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'DNA sequences in FTAAD', 'timeFrame': '16 months', 'description': 'Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families'}], 'secondaryOutcomes': [{'measure': 'Mutations associated with Mendelian and monogenic diseases', 'timeFrame': '24 months', 'description': 'Identification of potential sites for the location of the responsible gene and mutations associated with Mendelian and monogenic diseases.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['familial thoracic aortic aneurysm and dissection', 'Linkage analysis', 'biomarkers'], 'conditions': ['Familial Thoracic Aortic Aneurysm and Aortic Dissection']}, 'referencesModule': {'references': [{'pmid': '27297344', 'type': 'BACKGROUND', 'citation': 'Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.'}, {'pmid': '29708033', 'type': 'BACKGROUND', 'citation': 'Carino D, Agostinelli A, Molardi A, Benassi F, Gherli T, Nicolini F. The role of genetic testing in the prevention of acute aortic dissection. Eur J Prev Cardiol. 2018 Jun;25(1_suppl):15-23. doi: 10.1177/2047487318756433.'}]}, 'descriptionModule': {'briefSummary': 'The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD.', 'detailedDescription': 'According to current guidelines, it is important to screen first-degree relatives of patients with familial thoracic aortic aneurysm and dissection (FTAAD) using imaging techniques in order to detect any undiagnosed or asymptomatic cases. The current diagnostic methods for FTAAD involve clinical and instrumental diagnosis. In addition to these methods, genetic analysis through DNA testing, using a blood sample has become an essential tool. The use of massive parallel sequencing (NGS) of multiple genes or the entire exome (Whole Exome Sequencing - WES) is considered the gold standard for genetic diagnosis of FTAAD. However, it should be noted that linkage studies are not currently included in the diagnostic protocols of the Italian National Health System, although they may be helpful in complex familial cases where DNA sequencing has not provided conclusive evidence.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Families of patients with FTAAD in follow-up in an italian reference centre for genetic aorthopathies.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES\n* Subjects with small and medium artery aneurysms in the absence of a mutation identified by WES\n* Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES\n* Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES\n* Signed informed consent\n\nExclusion Criteria:\n\n* Subjects wit syndromic FTAAD with WES identified gene mutation\n* Subjects wit non-syndromic FTAAD with WES identified gene mutation'}, 'identificationModule': {'nctId': 'NCT06783803', 'acronym': 'ORPHADIAG', 'briefTitle': 'Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms', 'organization': {'class': 'OTHER', 'fullName': 'IRCCS Policlinico S. Donato'}, 'officialTitle': 'Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms', 'orgStudyIdInfo': {'id': 'ORPHADIAG'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'FTAAD', 'description': 'members of families with FTAAD', 'interventionNames': ['Diagnostic Test: Linkage Analysis']}], 'interventions': [{'name': 'Linkage Analysis', 'type': 'DIAGNOSTIC_TEST', 'description': 'WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies', 'armGroupLabels': ['FTAAD']}]}, 'contactsLocationsModule': {'locations': [{'zip': '20097', 'city': 'San Donato Milanese', 'state': 'Milan', 'country': 'Italy', 'facility': 'Cardiovascular Genetic Centre', 'geoPoint': {'lat': 45.41047, 'lon': 9.26838}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'IPD will be considered for sharing after data collection and analysis'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS Policlinico S. Donato', 'class': 'OTHER'}, 'collaborators': [{'name': 'IRCCS Ospedale San Raffaele', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Pincipal Investigator', 'investigatorFullName': 'Alessandro Pini', 'investigatorAffiliation': 'IRCCS Policlinico S. Donato'}}}}