Ignite Creation Date:
2025-12-24 @ 3:45 PM
Ignite Modification Date:
2026-02-22 @ 4:51 PM
Study NCT ID:
NCT05217992
Status:
COMPLETED
Last Update Posted:
2023-08-07
First Post:
2022-01-19
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Are There Differences Between Carriers of Haemophilia A and B?
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006467', 'term': 'Hemophilia A'}, {'id': 'D002836', 'term': 'Hemophilia B'}], 'ancestors': [{'id': 'D025861', 'term': 'Blood Coagulation Disorders, Inherited'}, {'id': 'D001778', 'term': 'Blood Coagulation Disorders'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D020147', 'term': 'Coagulation Protein Disorders'}, {'id': 'D006474', 'term': 'Hemorrhagic Disorders'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Genetic testing for hemophilia'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 900}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2021-05-25', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-08', 'completionDateStruct': {'date': '2023-04-30', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-08-04', 'studyFirstSubmitDate': '2022-01-19', 'studyFirstSubmitQcDate': '2022-01-19', 'lastUpdatePostDateStruct': {'date': '2023-08-07', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2022-02-01', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-04-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of carriers, bleeding phenotype in hemophilia A and B carriers', 'timeFrame': '18 month', 'description': 'Comparison of bleeding phenotype between hemophilia A and B carriers, number of carriers per family confirmed at the end of the study'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['hemophilia A', 'hemophilia B', 'genetic testing', 'carriers'], 'conditions': ['Hemophilia']}, 'referencesModule': {'references': [{'pmid': '39167764', 'type': 'DERIVED', 'citation': 'Krumb E, Lambert C, Van Damme A, Hermans C. Proactive systematic hemophilia carrier screening: a step toward gender equity in hemophilia care. Blood Adv. 2024 Oct 22;8(20):5268-5278. doi: 10.1182/bloodadvances.2024013866.'}]}, 'descriptionModule': {'briefSummary': 'This study aims to develop a systematic genetic screening strategy for (potential) female carriers of haemophilia by identifying as many female carriers as possible within the families of haemophilia patients regularly followed at Cliniques universitaires Saint-Luc (CUSL) and to search for differences between female carriers of haemophilia A (HA) and B (HB).', 'detailedDescription': "In order to complete our local registry of female carriers, the family trees of haemophilia patients will be systematically updated during their follow-up consultations at the haemophilia centre. Female carriers not yet known in our centre, identified by the updating of pedigrees, will be invited to present themselves in the haematology consultation and to participate in the study by means of an invitation and information letter which will be given/sent to them by the index haemophilia patient. Female carriers already known for whom missing data and/or the indication of regular follow-up have been identified during the file review will also be invited to attend a consultation within the framework of the study.\n\nAt these consultations, (potential) carriers will be given information about haemophilia, the mode of genetic transmission and the implications of carrier status on patients' lives (bleeding prevention, reproductive choices, current haemophilia treatments and future prospects). We will then determine the bleeding phenotype of each patient by taking a comprehensive bleeding history. With the consent of the participants concerned, the familial genetic variant responsible for haemophilia will be sought in them in order to definitively establish their carrier status. The basal level of coagulation factors VIII (HA)/IX (HB) will also be determined. If a deficiency is found, haemostatic treatment adapted to the patient's situation will be initiated and clinical follow-up outside the study recommended.\n\nAfter completion of the data collection, the data will be analyzed and compared between HA and HB carriers in order to identify possible differences between these two populations."}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '85 Years', 'minimumAge': '12 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '1. Carriers of HA/HB already known and registered at the HTC (i.e. with an EMR).\n2. Carriers identified by pedigree review, invited/informed by family related haemophilia patients registered in the HTC, accepting to participate after informed consent.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n\\- Family member affected by haemophilia A or B and potential/obligate carriership of HA/HB.\n\nExclusion Criteria:\n\n* None.'}, 'identificationModule': {'nctId': 'NCT05217992', 'briefTitle': 'Are There Differences Between Carriers of Haemophilia A and B?', 'organization': {'class': 'OTHER', 'fullName': 'Cliniques universitaires Saint-Luc- Université Catholique de Louvain'}, 'officialTitle': 'Are There Differences Between Carriers of Haemophilia A and B? A Comparative Study of Clotting Factor Deficiencies, Bleeding Phenotype and Haemostatic Treatment Requirements', 'orgStudyIdInfo': {'id': '2021/29MAR/153'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Carriers or potential carriers of hemophilia A and B', 'description': 'All obligate and potential carriers among families of patient with hemophilia followed at the hemophilia treatment center of the Cliniques universitaires Saint-Luc, Brussels. Belgium', 'interventionNames': ['Other: Genetic assessment (hemophilia testing)']}], 'interventions': [{'name': 'Genetic assessment (hemophilia testing)', 'type': 'OTHER', 'description': 'Determination of carrier ship of hemophilia with molecular tests', 'armGroupLabels': ['Carriers or potential carriers of hemophilia A and B']}]}, 'contactsLocationsModule': {'locations': [{'zip': '1200', 'city': 'Brussels', 'state': 'International', 'country': 'Belgium', 'facility': 'Cliniques universitaires Saint-Luc', 'geoPoint': {'lat': 50.85045, 'lon': 4.34878}}], 'overallOfficials': [{'name': 'Cedric Hermans, MD,PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Cliniques universitaires Saint-Luc- Université Catholique de Louvain'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Cliniques universitaires Saint-Luc- Université Catholique de Louvain', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}