Ignite Creation Date:
2025-12-24 @ 4:20 PM
Ignite Modification Date:
2026-03-01 @ 10:02 AM
Study NCT ID:
NCT01999166
Status:
COMPLETED
Last Update Posted:
2025-07-30
First Post:
2013-11-14
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D010003', 'term': 'Osteoarthritis'}], 'ancestors': [{'id': 'D001168', 'term': 'Arthritis'}, {'id': 'D007592', 'term': 'Joint Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D012216', 'term': 'Rheumatic Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D014965', 'term': 'X-Rays'}], 'ancestors': [{'id': 'D060733', 'term': 'Electromagnetic Radiation'}, {'id': 'D055590', 'term': 'Electromagnetic Phenomena'}, {'id': 'D060328', 'term': 'Magnetic Phenomena'}, {'id': 'D055585', 'term': 'Physical Phenomena'}, {'id': 'D011827', 'term': 'Radiation'}, {'id': 'D011839', 'term': 'Radiation, Ionizing'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 5}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2014-10-07', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2022-12-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-07-25', 'studyFirstSubmitDate': '2013-11-14', 'studyFirstSubmitQcDate': '2013-11-26', 'lastUpdatePostDateStruct': {'date': '2025-07-30', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2013-12-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2021-12-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of new gene mutations associated with early onset of osteoarthritis using NGS (Next Generation Sequencing)', 'timeFrame': 'time of inclusion = Day 0', 'description': 'Clinical, genetic and imaging factors of osteoarthritis'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Osteoarthritis']}, 'descriptionModule': {'briefSummary': "This study will investigate the genes responsible for osteoarthritis. Individuals with osteoarthritis known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate.\n\nPatients will talk with investigators who will explain the study and its possible implications for the patient and family and answer questions. The patient's medical records will be reviewed, a personal and family history will be taken, and a physical examination will be done. Two procedures may be done including blood sampling (which will be used for DNA (genetic) studies) and X-rays (to define osteoarthritis grade).\n\nIf no known mutations responsible for osteoarthritis will be detected, participating family members will be interviewed by telephone about their personal and family health history and will have a blood sample drawn for DNA testing, and X-rays.", 'detailedDescription': 'We will investigate the clinical manifestations and molecular genetic defects of human osteoarthritis. Families with osteoarthritis of known or suspected genetic basis will be enrolled. Individuals will undergo clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed for disorders in which the genetic bases is not yet known.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Family With Early Onset Osteoarthritis', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Individuals (and family members) with early onset osteoarthritis according to the following definition:\n\n * symptomatic OA before 50 years old\n * no obvious causes of OA (IMC \\> 30, dysplasia,joint traumas)\n * at least three OA locations\n\nExclusion Criteria:\n\n* Individuals younger than 18 years old.'}, 'identificationModule': {'nctId': 'NCT01999166', 'acronym': 'Exorhum', 'briefTitle': 'Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Caen'}, 'officialTitle': 'Phenotype/Genotype Correlation in a Family With Early Onset Osteoarthritis: Contribution of Genetic in the Diagnosis and Early Management of Patients.', 'orgStudyIdInfo': {'id': '2013-A00211-4'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Osteoarthritis', 'interventionNames': ['Radiation: radiography (X-ray)', 'Genetic: DNA sampling']}], 'interventions': [{'name': 'radiography (X-ray)', 'type': 'RADIATION', 'armGroupLabels': ['Osteoarthritis']}, {'name': 'DNA sampling', 'type': 'GENETIC', 'armGroupLabels': ['Osteoarthritis']}]}, 'contactsLocationsModule': {'locations': [{'zip': '14000', 'city': 'Caen', 'state': 'France', 'country': 'France', 'facility': 'CHU', 'geoPoint': {'lat': 49.18585, 'lon': -0.35912}}], 'overallOfficials': [{'name': 'Christian MARCELLI', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Hospital, Caen'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Caen', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}