Ignite Creation Date:
2025-12-24 @ 10:02 PM
Ignite Modification Date:
2025-12-25 @ 7:38 PM
Study NCT ID:
NCT05911932
Status:
RECRUITING
Last Update Posted:
2025-03-04
First Post:
2023-06-12
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Investigating Genetic Status in Patients Presenting to Clinic
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D057180', 'term': 'Frontotemporal Dementia'}, {'id': 'D000544', 'term': 'Alzheimer Disease'}, {'id': 'D020961', 'term': 'Lewy Body Disease'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}], 'ancestors': [{'id': 'D057174', 'term': 'Frontotemporal Lobar Degeneration'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D057177', 'term': 'TDP-43 Proteinopathies'}, {'id': 'D057165', 'term': 'Proteostasis Deficiencies'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D019965', 'term': 'Neurocognitive Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D024801', 'term': 'Tauopathies'}, {'id': 'D020734', 'term': 'Parkinsonian Disorders'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D000080874', 'term': 'Synucleinopathies'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'To examine genetic and polymorphism biomarkers via a blood sample, where the biosample will be tested for genes thought to be relevant to neurodegenerative diseases, and could be re-tested as newly discovered genetic mutations or polymorphisms are revealed.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-10-20', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-03', 'completionDateStruct': {'date': '2043-08', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-03-03', 'studyFirstSubmitDate': '2023-06-12', 'studyFirstSubmitQcDate': '2023-06-12', 'lastUpdatePostDateStruct': {'date': '2025-03-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-06-22', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2038-08', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Blood draw for genetic status or polymorphism result.', 'timeFrame': 'A one-time visit, taking the participant approximately 20 minutes total for all study procedures.', 'description': 'The blood draw is taken at the time of the clinic visit. Up to 30ml will be collected by standard venipuncture.'}], 'secondaryOutcomes': [{'measure': 'Demographic information.', 'timeFrame': 'A one-time visit, taking the participant approximately 20 minutes total for all study procedures.', 'description': 'Demographic information will be collected at the time of the clinic visit.'}, {'measure': 'Medical history/Clinical diagnoses.', 'timeFrame': 'Typically within 1 month of the clinic visit, taking approximately 5 minutes.', 'description': "Will be obtained via chart review when available. This information is collected already as part of the patient's standard care."}, {'measure': 'Pathological diagnoses.', 'timeFrame': 'Typically within 1 month of the clinic visit, taking approximately 5 minutes.', 'description': "Will be obtained via chart review when available. This information is collected already as part of the patient's standard care."}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Neurodegenerative disorders'], 'conditions': ['Dementia, Frontotemporal', 'Alzheimer Dementia (AD)', 'Lewy Body Dementia (LBD)']}, 'descriptionModule': {'briefSummary': "The causes of neurodegenerative dementias such as Frontotemporal Dementia, Lewy Body Disease and Alzheimer's disease are still largely unknown. While the contribution of some genetic mutations and polymorphisms is associated with autosomal dominant patterns of inheritance of these dementias, in many cases, the specific causative mutation in these families is not yet identified. Further, in many patients, polygenic risk is thought to give rise to pathophysiologic changes, but which specific genes affect risk are largely yet unknown. By examining genotypes in patients that present to our Cognitive Neurology and Alzheimer's Research Clinic with suspected or confirmed neurodegenerative dementia, or have a history of a familial dementia, we aim to help identify and characterize genetic mutations or polymorphisms that give rise to neurodegenerative diseases."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Persons presenting to the cognitive clinic with a neurodegenerative disorder (for example, AD, FTD, LBD, ALSP, and related conditions);\n\nBiological family members of someone diagnosed with a neurodegenerative disorder, presenting to clinic;', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Persons presenting to the cognitive clinic with a neurodegenerative disorder (for example, AD, FTD, LBD, ALSP, and related conditions);\n* Biological family members of someone diagnosed with a neurodegenerative disorder, presenting to clinic;\n* Age 18+ years old;\n* Consenting to a blood draw.\n\nExclusion Criteria:\n\n• Persons declining / unwilling / not able to have a blood draw.'}, 'identificationModule': {'nctId': 'NCT05911932', 'briefTitle': 'Investigating Genetic Status in Patients Presenting to Clinic', 'organization': {'class': 'OTHER', 'fullName': "London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's"}, 'officialTitle': 'Investigating Genetic Status in Patients Presenting to Clinic', 'orgStudyIdInfo': {'id': '121760'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Biosample collection.', 'type': 'OTHER', 'description': 'Blood draw.'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'N6C 0A7', 'city': 'London', 'state': 'Ontario', 'status': 'RECRUITING', 'country': 'Canada', 'contacts': [{'name': 'S Jesso, BA', 'role': 'CONTACT', 'phone': '519-646-6000'}], 'facility': 'Parkwood Institute', 'geoPoint': {'lat': 42.98339, 'lon': -81.23304}}], 'centralContacts': [{'name': 'Sarah Jesso', 'role': 'CONTACT', 'email': 'cognitiveneurology@sjhc.london.on.ca', 'phone': '519-646-6000'}], 'overallOfficials': [{'name': 'Elizabeth Finger, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's", 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Associate Professor', 'investigatorFullName': 'Elizabeth Finger', 'investigatorAffiliation': "London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's"}}}}