Ignite Creation Date:
2025-12-25 @ 12:36 AM
Ignite Modification Date:
2026-01-04 @ 12:39 AM
Study NCT ID:
NCT06794567
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-01-27
First Post:
2025-01-08
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genomic First Testing in Chronic Kidney Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D051436', 'term': 'Renal Insufficiency, Chronic'}], 'ancestors': [{'id': 'D051437', 'term': 'Renal Insufficiency'}, {'id': 'D007674', 'term': 'Kidney Diseases'}, {'id': 'D014570', 'term': 'Urologic Diseases'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D002908', 'term': 'Chronic Disease'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D005820', 'term': 'Genetic Testing'}], 'ancestors': [{'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 extracted from blood and saliva samples.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 2400}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-03-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-01', 'completionDateStruct': {'date': '2028-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-01-21', 'studyFirstSubmitDate': '2025-01-08', 'studyFirstSubmitQcDate': '2025-01-21', 'lastUpdatePostDateStruct': {'date': '2025-01-27', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-01-27', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Diagnostic yield and time to diagnosis', 'timeFrame': 'Study duration', 'description': 'Our primary outcome is to address the need for high diagnostic yields and short times to diagnosis for chronic kidney disease as highlighted by our patient partner board by comparing a genome-wide sequencing approach to the standard genetic testing in patients at risk of genetic kidney disease'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Chronic Kidney Disease', 'Genetic Testing', 'Genome wide sequencing'], 'conditions': ['Chronic Kidney Disease(CKD)', 'Genetic Kidney Disease']}, 'descriptionModule': {'briefSummary': "This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease.\n\nTo evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use.\n\nFamily members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group.\n\nThe study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.", 'detailedDescription': "This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease.\n\nTo evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use.\n\nFamily members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group.\n\nThe study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients, Family Members, Healthcare providers', 'healthyVolunteers': True, 'eligibilityCriteria': 'Patients:\n\nInclusion Criteria:\n\n1. A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND\n2. Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND\n3. Index participant or substitute decision maker (SDM) can provide informed consent to participate.\n\nExclusion Criteria:\n\n1. Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.\n2. Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD.\n\nFamily Members:\n\nInclusion Criteria:\n\n1. Family/caregiver or SDM can provide informed consent to participate AND\n2. Related patient participant must be enrolled in the study.\n\nExclusion Criteria:\n\n1. Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.\n2. Related patient participant is not enrolled in the study.\n\nHealthcare Provider:\n\nInclusion Criteria 1. Provided a referral for at least one study participant.\n\nExclusion Criteria:\n\n1\\. Is not a referring healthcare provider.\n\nQualitative Sub-Study:\n\nInclusion Criteria:\n\n1. Patient participant who is enrolled in the main study.\n2. 18 years or older.\n3. The guardian for a minor\n\nExclusion Criteria:\n\n1. \\<18 years of age unless the guardian can conduct the interview\n2. Patient participant who is not enrolled in the main study.'}, 'identificationModule': {'nctId': 'NCT06794567', 'briefTitle': 'Genomic First Testing in Chronic Kidney Disease', 'organization': {'class': 'OTHER', 'fullName': "London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's"}, 'officialTitle': 'Improving Diagnosis for Genetic Kidney Disease Through Early Genomic Assessment', 'orgStudyIdInfo': {'id': 'Genomic First Testing in CKD'}}, 'armsInterventionsModule': {'armGroups': [{'label': '< 1 year since diagnosis of kidney disease', 'interventionNames': ['Diagnostic Test: Genetic Testing']}, {'label': '> 1 year since diagnosis of kidney disease', 'interventionNames': ['Diagnostic Test: Genetic Testing']}], 'interventions': [{'name': 'Genetic Testing', 'type': 'DIAGNOSTIC_TEST', 'description': 'Early access to genetic testing.', 'armGroupLabels': ['< 1 year since diagnosis of kidney disease', '> 1 year since diagnosis of kidney disease']}]}, 'contactsLocationsModule': {'locations': [{'zip': 'N6A 5A5', 'city': 'London', 'state': 'Ontario', 'country': 'Canada', 'contacts': [{'name': 'Dervla Connaughton, MD', 'role': 'CONTACT', 'email': 'dervla.connaughton@lhsc.on.ca', 'phone': '519-685-8500'}, {'name': 'Sydney Relouw', 'role': 'CONTACT', 'email': 'sydney.relouw@lhsc.on.ca', 'phone': '519-685-8500', 'phoneExt': '34769'}, {'name': 'Dervla Connaughton, MD', 'role': 'CONTACT'}], 'facility': 'London Health Sciences Centre', 'geoPoint': {'lat': 42.98339, 'lon': -81.23304}}], 'centralContacts': [{'name': 'Dervla Connaughton, MD', 'role': 'CONTACT', 'email': 'dervla.connaughton@lhsc.on.ca', 'phone': '519-685-8500'}, {'name': 'Sydney Relouw, MSc', 'role': 'CONTACT', 'email': 'sydney.relouw@lhsc.on.ca', 'phone': '519-685-8500', 'phoneExt': '34769'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Dervla Connaughton', 'class': 'OTHER'}, 'collaborators': [{'name': 'London Health Sciences Centre', 'class': 'OTHER'}, {'name': "London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's", 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'Dervla Connaughton', 'investigatorAffiliation': "London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's"}}}}