Ignite Creation Date:
2025-12-24 @ 5:09 PM
Ignite Modification Date:
2025-12-27 @ 1:52 AM
Study NCT ID:
NCT00473850
Status:
TERMINATED
Last Update Posted:
2011-04-15
First Post:
2007-05-14
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D005097', 'term': 'Exostoses, Multiple Hereditary'}], 'ancestors': [{'id': 'D018216', 'term': 'Osteochondromatosis'}, {'id': 'D015831', 'term': 'Osteochondroma'}, {'id': 'D018213', 'term': 'Neoplasms, Bone Tissue'}, {'id': 'D009372', 'term': 'Neoplasms, Connective Tissue'}, {'id': 'D018204', 'term': 'Neoplasms, Connective and Soft Tissue'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D009386', 'term': 'Neoplastic Syndromes, Hereditary'}, {'id': 'D010009', 'term': 'Osteochondrodysplasias'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D005096', 'term': 'Exostoses'}, {'id': 'D015576', 'term': 'Hyperostosis'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 2000}}, 'statusModule': {'whyStopped': 'This study is recruiting under a different title - "Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project" NCT00474331', 'overallStatus': 'TERMINATED', 'startDateStruct': {'date': '1998-12'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2011-04', 'completionDateStruct': {'date': '2023-03', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2011-04-13', 'studyFirstSubmitDate': '2007-05-14', 'studyFirstSubmitQcDate': '2007-05-15', 'lastUpdatePostDateStruct': {'date': '2011-04-15', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2007-05-16', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['DNA sequencing', 'EXT genes', 'Hereditary Multiple Exostoses,', 'also known as Multiple Hereditary Exostoses,', 'also known as Hereditary Multiple Osteochondromas'], 'conditions': ['Exostoses, Multiple Hereditary']}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to establish the genetic profile of families in British Columbia with HME.', 'detailedDescription': "The purpose of this study is to establish the genetic make-up of families and patients with HME. This will occur as the patient presents to a regular clinic visit. Dr. Alvarez will be introduced to interested patients and their parent(s) and a brief discussion about the project will occur. If the patient and their direct family are interested they will be entered into the study. This will involve interviewing the patients and their direct family. This interview will take about 1 hour. We are interested in identifying all affected family members as far up the family tree as possible. We ask that the idea of the study be introduced to extended family members by the participating family members and then have them call Dr. Alvarez to set up an appointment. Each available member will be interviewed and a physical exam done to determine the location of osteochondromas. In addition, Xrays will be done to determine the location of all osteochondromas. All Xrays will be reviewed. No new ones will be taken unless it is part of the patient's routine care.\n\nTo complete the genetic work up DNA analysis will be done on all available family members. This will entail obtaining a blood sample from each family member willing to partake in the study. These blood samples will be used only for the purpose of identifying abnormalities in the genes related to osteochondromas. The blood samples will be taken at British Columbia's Children's Hospital and processed there. DNA samples will be kept confidential."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Benetic profile of families in British Columbia with HME.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Diagnosed with HME'}, 'identificationModule': {'nctId': 'NCT00473850', 'briefTitle': 'Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC', 'organization': {'class': 'OTHER', 'fullName': 'University of British Columbia'}, 'officialTitle': 'Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC', 'orgStudyIdInfo': {'id': 'H98-70441'}}, 'contactsLocationsModule': {'locations': [{'zip': 'V6H 3V4', 'city': 'Vancouver', 'state': 'British Columbia', 'country': 'Canada', 'facility': "BC Children's Hospital", 'geoPoint': {'lat': 49.24966, 'lon': -123.11934}}], 'overallOfficials': [{'name': 'Christine Alvarez, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of British Columbia'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of British Columbia', 'class': 'OTHER'}, 'collaborators': [{'name': 'Circle of Care', 'class': 'UNKNOWN'}, {'name': 'Vancouver Foundation', 'class': 'OTHER'}, {'name': "Children's & Women's Health Centre of British Columbia", 'class': 'OTHER'}], 'responsibleParty': {'oldNameTitle': 'Dr. Christine Alvarez', 'oldOrganization': 'University of British Columbia'}}}}