Ignite Creation Date:
2025-12-25 @ 1:38 AM
Ignite Modification Date:
2025-12-31 @ 10:19 AM
Study NCT ID:
NCT01199094
Status:
COMPLETED
Last Update Posted:
2010-09-10
First Post:
2010-09-09
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D010022', 'term': 'Osteopetrosis'}, {'id': 'C536056', 'term': 'Osteopetrosis autosomal dominant type 1'}], 'ancestors': [{'id': 'D010026', 'term': 'Osteosclerosis'}, {'id': 'D010009', 'term': 'Osteochondrodysplasias'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Serum, plasma, DNA as well as fat and skin biopsies'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 38}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2009-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2010-08', 'completionDateStruct': {'date': '2010-06', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2010-09-09', 'studyFirstSubmitDate': '2010-09-09', 'studyFirstSubmitQcDate': '2010-09-09', 'lastUpdatePostDateStruct': {'date': '2010-09-10', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2010-09-10', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2010-04', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT)', 'timeFrame': '12 weeks', 'description': 'HR-pQCT is used to evaluate bone microarchitecture, i.e. bone trabeculae, cortical thickness and trabecular number. Aim is to test if the microarchitecture of these patients are different that observed in normal controls'}], 'secondaryOutcomes': [{'measure': 'Changes in bone turnover markers', 'timeFrame': '12 weeks', 'description': 'Markers of bone resorption and formation are investigated.'}, {'measure': 'Bone mineral density', 'timeFrame': '12 weeks', 'description': 'DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['low density lipoprotein receptor 5', 'high bone mass', 'autosomal dominant osteopetrosis type I', 'bone turnover markers'], 'conditions': ['Osteopetrosis']}, 'referencesModule': {'references': [{'pmid': '20200960', 'type': 'RESULT', 'citation': 'Frost M, Andersen TE, Yadav V, Brixen K, Karsenty G, Kassem M. Patients with high-bone-mass phenotype owing to Lrp5-T253I mutation have low plasma levels of serotonin. J Bone Miner Res. 2010 Mar;25(3):673-5. doi: 10.1002/jbmr.44.'}]}, 'descriptionModule': {'briefSummary': 'The aim of the study is to describe patients with a high bone mass phenotype due to a mutation in the low density lipoprotein l receptor 5 gene (LRP5) and compare them with age and sex matched controls. Moreover, bone density and microarchitecture as well as markers of bone metabolism are evaluated', 'detailedDescription': 'Cases and controls are closely matched on age and sex and evaluated cross-sectionally.\n\nDual x-ray absorptiometry (DXA) and high resolution peripheral quantitative computed tomography (HR-pQCT) are used in order to evaluate bone density as well as microarchitecture. Bone turnover markers and body composition are also measured.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '8 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Case-control study on almost 40 individuals', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Lrp5 mutation/ADOI\n\nExclusion Criteria:\n\n* Pregnancy'}, 'identificationModule': {'nctId': 'NCT01199094', 'briefTitle': 'Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5', 'organization': {'class': 'OTHER', 'fullName': 'Odense University Hospital'}, 'officialTitle': 'Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5', 'orgStudyIdInfo': {'id': 'LRP5-HBM'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with mutation in the Lrp5 gene', 'description': 'Patients known to have a mutation in Lrp5 known to be causing a high bone mass phenotype'}]}, 'contactsLocationsModule': {'locations': [{'zip': '5000', 'city': 'Odense', 'country': 'Denmark', 'facility': 'Odense University Hospital, Osteoporosis Clinic', 'geoPoint': {'lat': 55.39594, 'lon': 10.38831}}], 'overallOfficials': [{'name': 'Kim Brixen, Professor', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Odense University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Odense University Hospital', 'class': 'OTHER'}, 'responsibleParty': {'oldNameTitle': 'Kim Brixen, Professor, consultant', 'oldOrganization': 'Odense University Hospital'}}}}