Ignite Creation Date:
2025-12-24 @ 10:20 PM
Ignite Modification Date:
2025-12-25 @ 7:53 PM
Study NCT ID:
NCT00344435
Status:
COMPLETED
Last Update Posted:
2018-04-05
First Post:
2006-06-23
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Genetic Susceptibility to Factor VIII Inhibitors
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['United States']}, 'conditionBrowseModule': {'meshes': [{'id': 'D006467', 'term': 'Hemophilia A'}, {'id': 'D013927', 'term': 'Thrombosis'}], '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': 'D016769', 'term': 'Embolism and Thrombosis'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 1187}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2005-05-24'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-04-05', 'completionDateStruct': {'date': '2016-04-05'}, 'lastUpdateSubmitDate': '2018-04-04', 'studyFirstSubmitDate': '2006-06-23', 'studyFirstSubmitQcDate': '2006-06-23', 'lastUpdatePostDateStruct': {'date': '2018-04-05', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2006-06-26', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Collection from 3500 donors', 'timeFrame': 'Every six months'}]}, 'conditionsModule': {'keywords': ['Hemophilia', 'Antibody', 'Mutations', 'SNP', 'clotting'], 'conditions': ['Hemophilia']}, 'referencesModule': {'references': [{'pmid': '9873790', 'type': 'BACKGROUND', 'citation': 'Vermylen J. How do some haemophiliacs develop inhibitors? Haemophilia. 1998 Jul;4(4):538-42. doi: 10.1046/j.1365-2516.1998.440538.x.'}, {'pmid': '880746', 'type': 'BACKGROUND', 'citation': 'Frommel D, Allain JP. Genetic predisposition to develop factor VIII antibody in classic hemophilia. Clin Immunol Immunopathol. 1977 Jul;8(1):34-8. doi: 10.1016/0090-1229(77)90089-7. No abstract available.'}, {'pmid': '11380630', 'type': 'BACKGROUND', 'citation': 'Astermark J, Berntorp E, White GC, Kroner BL; MIBS Study Group. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia. 2001 May;7(3):267-72. doi: 10.1046/j.1365-2516.2001.00510.x.'}]}, 'descriptionModule': {'briefSummary': "This international study will identify genetic factors that may influence the development of inhibitory antibodies in patients with hemophilia A after treatment with factor VIII. Bleeding episodes in patients with inhibitors are often more difficult to treat. Previous research indicates that genetic factors play a role in the development of inhibitors. A better understanding of the influence of genes in this treatment complication may be helpful in predicting, treating or preventing inhibitors.\n\nPeople in families in which one or more members have severe factor VIII deficiency and one or more have a history of an inhibitor may be eligible for this study. Participants fill out a form with questions about the person's relationship to other family members taking part in the study. Those with hemophilia provide a brief medical history, including hemophilia-related information, inhibitor history and the presence of other conditions such as hepatitis C and HIV. All participants have a blood sample taken for laboratory and research tests.", 'detailedDescription': 'In collaboration with investigators of the Hemophilia Inhibitor Genetic Study (HIGS) multicenter study and the University of Lund, University Hospital, Malmo, Sweden, we propose to assess the role of genetic variants in the process of developing inhibitors to Factor VIII in persons with hemophilia. The discovery of genetic associations offers the potential to direct clinical management in order to prevent inhibitor development and improve clinical care in patients with inhibitors.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '100 Years', 'minimumAge': '1 Year', 'healthyVolunteers': False, 'eligibilityCriteria': '* INCLUSION CRITERIA\n\nDNA and relevant clinical data from properly consented hemophiliac subjects and family members (maximum estimated = 3500) will be provided to the LGD for genotyping and analysis.\n\nEXCLUSION CRITERIA\n\nNo available subjects will be excluded to maximize power.'}, 'identificationModule': {'nctId': 'NCT00344435', 'briefTitle': 'Genetic Susceptibility to Factor VIII Inhibitors', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Factor VIII Inhibitor Formation: Identifying Predisposing Genetic Factors', 'orgStudyIdInfo': {'id': '999905160'}, 'secondaryIdInfos': [{'id': '05-C-N160'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Malmo', 'country': 'Sweden', 'facility': 'University Hospital, University of Lund', 'geoPoint': {'lat': 55.60587, 'lon': 13.00073}}], 'overallOfficials': [{'name': 'Janelle Cortner, Ph.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'National Cancer Institute (NCI)'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Cancer Institute (NCI)', 'class': 'NIH'}, 'responsibleParty': {'type': 'SPONSOR'}}}}