Ignite Creation Date:
2025-12-25 @ 1:41 AM
Ignite Modification Date:
2026-02-27 @ 12:49 AM
Study NCT ID:
NCT03857594
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-12-03
First Post:
2018-10-23
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Integrative Sequencing In Germline and Hereditary Tumours
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009386', 'term': 'Neoplastic Syndromes, Hereditary'}], 'ancestors': [{'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Archival tumor tissue, whole blood at baseline for germ-line DNA analysis'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 10}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2018-10-02', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-11', 'completionDateStruct': {'date': '2026-09', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-11-25', 'studyFirstSubmitDate': '2018-10-23', 'studyFirstSubmitQcDate': '2019-02-26', 'lastUpdatePostDateStruct': {'date': '2025-12-03', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2019-02-28', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-09', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of genomic contributors to inherited cancer through genome-wide germline analysis', 'timeFrame': 'Through study completion, up to 3 years'}, {'measure': 'Number of identified novel mechanisms of tumorigenesis in hereditary cancer patients', 'timeFrame': 'Through study completion, up to 3 years'}], 'secondaryOutcomes': [{'measure': 'Utilization rate of whole genome sequencing of the germline in identifying hereditary disorders', 'timeFrame': 'Through study completion, up to 3 years'}, {'measure': 'Utilization rate of genome scale/targeted analysis of tumours in identifying potential therapeutic modalities', 'timeFrame': 'Through study completion, up to 3 years'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Hereditary Cancer Syndrome', 'High-Risk', 'Mutation', 'Germline Mutation', 'Rare Cancer Histology', 'Whole Genome Sequencing (WGS)', 'Whole Exome Sequencing (WES)'], 'conditions': ['Hereditary Cancer Syndrome', 'High-Risk', 'Mutation', 'Germline Mutation']}, 'referencesModule': {'references': [{'pmid': '37481477', 'type': 'DERIVED', 'citation': 'Wang Y, Ding Q, Prokopec S, Farncombe KM, Bruce J, Casalino S, McCuaig J, Szybowska M, van Engelen K, Lerner-Ellis J, Pugh TJ, Kim RH. Germline whole genome sequencing in adults with multiple primary tumors. Fam Cancer. 2023 Oct;22(4):513-520. doi: 10.1007/s10689-023-00343-2. Epub 2023 Jul 22.'}]}, 'descriptionModule': {'briefSummary': 'This study will investigate the utility of integrative sequencing of individuals and families at risk of hereditary cancer syndromes and will uncover novel contributors to tumourigenesis. Integrative sequencing refers to:\n\n1. Whole genome sequencing (WGS) of the germline (inherited) genome\n2. Whole exome sequencing (WES) or targeted/panel sequencing of tumour(s) (somatic, tumour-specific mutations)\n3. DNA methylation (methylome) analysis of tumour(s)\n4. RNA sequencing (transcriptome) of tumour(s)\n\nEligible patients receiving genetic care at Princess Margaret Cancer Centre and the University Health Network may be approached by their genetic counsellor for participation in this study.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'All individuals at risk of a hereditary cancer syndrome with or without a known germline mutation. This includes individuals with multiple primary malignancies, families with a strong family history of cancer, young individuals with cancer, rare cancer histologies.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Patients must be ≥18 years of age\n2. All patients and enrolled family members must have a signed and dated informed consent form\n\nAll individuals at risk of a hereditary cancer syndrome without a known germline mutation from clinical genetic testing, will be eligible for this study. This includes:\n\n1. Individuals with multiple primary malignancies\n2. Families with a strong family history of cancer suggestive of a hereditary cancer syndrome\n3. Young individuals with cancer (10 years earlier than the age of onset of sporadic cases) and no identified gene mutation\n4. Rare cancer histologies\n\nIndividuals with an identified germline mutation will also be eligible for this study, if there are discordant family members suggesting additional genetic factors contributing to the variable familial phenotype. For example, a family composed of mutation carriers severely affected with cancers, and carriers unaffected with cancer.\n\nExclusion Criteria:\n\nNone.'}, 'identificationModule': {'nctId': 'NCT03857594', 'acronym': 'INSIGHT', 'briefTitle': 'Integrative Sequencing In Germline and Hereditary Tumours', 'organization': {'class': 'OTHER', 'fullName': 'University Health Network, Toronto'}, 'officialTitle': 'Integrative Sequencing In Germline and Hereditary Tumours', 'orgStudyIdInfo': {'id': 'INSIGHT'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Individuals at risk of hereditary cancer syndrome', 'description': 'All individuals at risk of a hereditary cancer syndrome with or without a known germline mutation from clinical genetic testing.'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Toronto', 'state': 'Ontario', 'country': 'Canada', 'facility': 'University Health Network', 'geoPoint': {'lat': 43.70643, 'lon': -79.39864}}], 'overallOfficials': [{'name': 'Raymond Kim, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Health Network, Toronto'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Health Network, Toronto', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}