Ignite Creation Date:
2025-12-24 @ 12:09 PM
Ignite Modification Date:
2025-12-27 @ 4:15 PM
Study NCT ID:
NCT02014961
Status:
UNKNOWN
Last Update Posted:
2015-05-14
First Post:
2013-12-09
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Worm Study: Modifier Genes in Sudden Cardiac Death
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D053840', 'term': 'Brugada Syndrome'}, {'id': 'C565840', 'term': 'Long Qt Syndrome 3'}], 'ancestors': [{'id': 'D001145', 'term': 'Arrhythmias, Cardiac'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D000075224', 'term': 'Cardiac Conduction System Disease'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D059472', 'term': 'Exome'}], 'ancestors': [{'id': 'D016678', 'term': 'Genome'}, {'id': 'D040342', 'term': 'Genetic Structures'}, {'id': 'D055614', 'term': 'Genetic Phenomena'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'SINGLE', 'whoMasked': ['INVESTIGATOR']}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 223}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2015-04'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-05', 'completionDateStruct': {'date': '2025-04', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2015-05-13', 'studyFirstSubmitDate': '2013-12-09', 'studyFirstSubmitQcDate': '2013-12-12', 'lastUpdatePostDateStruct': {'date': '2015-05-14', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2013-12-19', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2025-04', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.', 'timeFrame': 'two years'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'conditions': ['Brugada Syndrome', 'Long QT Syndrome 3']}, 'descriptionModule': {'briefSummary': 'Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation.', 'detailedDescription': 'In a large Dutch SCN5A founder population with malignant ventricular arrhythmias, the investigators aim to identify genetic modifiers by means of whole-exome sequencing and to establish a comprehensive genotype-phenotype correlation, focussing on clinical and cellular electrophysiological characteristics and neurocardiac modulation.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria (mutation carrier group):\n\n* Age ≥ 18 years.\n* Heterozygous or homozygous carriership of SCN5A-delPhe1617.\n* Confirmed kinship to the founder population by haplotype analysis using predefined microsatellite markers.\n* Written informed consent.\n\nInclusion Criteria (non-mutation carrier group):\n\n* Age ≥ 18 years.\n* Non SCN5A-delPhe1617 genotype.\n* Confirmed kinship to the Founder Group by haplotype analysis using predefined microsatellite marker.\n* Written informed consent.\n\nInclusion criteria Spouse Group\n\n* Age ≥ 18 years.\n* Biological parent of SCN5A-delPhe1617 positive subject participating to the Worm Study, and not belonging to study group 1 or 2.\n* Written informed consent.\n\nExclusion Criteria:\n\n* Age ≥ 18 years.\n* Biological parent of SCN5A-delPhe1617 positive subject participating to the Worm Study, and not belonging to study group 1 or 2.\n* Written informed consent.'}, 'identificationModule': {'nctId': 'NCT02014961', 'briefTitle': 'Worm Study: Modifier Genes in Sudden Cardiac Death', 'organization': {'class': 'OTHER', 'fullName': 'Maastricht University Medical Center'}, 'officialTitle': 'Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death', 'orgStudyIdInfo': {'id': 'METC 142060'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'ACTIVE_COMPARATOR', 'label': 'Mutation Carriers', 'description': 'Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire', 'interventionNames': ['Procedure: Dermal biopsy', 'Behavioral: Gastro-intestinal questionnaire', 'Genetic: Whole-exome sequencing']}, {'type': 'PLACEBO_COMPARATOR', 'label': 'Non-Mutation Carriers', 'description': 'Whole-exome sequencing (WES) Gastro-intestinal questionnaire', 'interventionNames': ['Behavioral: Gastro-intestinal questionnaire', 'Genetic: Whole-exome sequencing']}, {'type': 'OTHER', 'label': 'Spouse', 'description': 'Whole-exome sequencing (WES) 12-Lead ECG', 'interventionNames': ['Genetic: Whole-exome sequencing']}], 'interventions': [{'name': 'Dermal biopsy', 'type': 'PROCEDURE', 'description': 'Skin biopsy', 'armGroupLabels': ['Mutation Carriers']}, {'name': 'Gastro-intestinal questionnaire', 'type': 'BEHAVIORAL', 'description': 'Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)', 'armGroupLabels': ['Mutation Carriers', 'Non-Mutation Carriers']}, {'name': 'Whole-exome sequencing', 'type': 'GENETIC', 'description': 'Whole-exome sequencing (WES)', 'armGroupLabels': ['Mutation Carriers', 'Non-Mutation Carriers', 'Spouse']}]}, 'contactsLocationsModule': {'locations': [{'zip': '6202 AZ', 'city': 'Maastricht', 'state': 'Limburg', 'status': 'RECRUITING', 'country': 'Netherlands', 'contacts': [{'name': 'ter Bekke', 'role': 'CONTACT', 'email': 'rachel.ter.bekke@mumc.nl', 'phone': '+31433877098'}], 'facility': 'Maastricht University Medical Center', 'geoPoint': {'lat': 50.84833, 'lon': 5.68889}}], 'centralContacts': [{'name': 'Rachel ter Bekke, M.D.', 'role': 'CONTACT', 'email': 'rachel.ter.bekke@mumc.nl', 'phone': '+31433877098'}, {'name': 'Paul Volders, M.D., Ph.D.', 'role': 'CONTACT', 'email': 'p.volders@maastrichtuniversity.nl', 'phone': '+31433877097'}], 'overallOfficials': [{'name': 'Paul Volders, M.D., Ph.D.', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Maastricht University Medical Centre'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Maastricht University Medical Center', 'class': 'OTHER'}, 'collaborators': [{'name': 'Netherlands Heart Foundation', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}