Ignite Creation Date:
2025-12-25 @ 2:58 AM
Ignite Modification Date:
2026-03-01 @ 12:27 AM
Study NCT ID:
NCT01707433
Status:
COMPLETED
Last Update Posted:
2015-08-04
First Post:
2012-10-12
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009085', 'term': 'Mucopolysaccharidosis IV'}, {'id': 'D009087', 'term': 'Mucopolysaccharidosis VI'}, {'id': 'D010009', 'term': 'Osteochondrodysplasias'}], 'ancestors': [{'id': 'D009083', 'term': 'Mucopolysaccharidoses'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D017520', 'term': 'Mucinoses'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D004796', 'term': 'Clinical Enzyme Tests'}], 'ancestors': [{'id': 'D019963', 'term': 'Clinical Chemistry Tests'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D057075', 'term': 'Enzyme Assays'}, {'id': 'D002623', 'term': 'Chemistry Techniques, Analytical'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 22}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-10'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-07', 'completionDateStruct': {'date': '2015-06', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2015-07-31', 'studyFirstSubmitDate': '2012-10-12', 'studyFirstSubmitQcDate': '2012-10-12', 'lastUpdatePostDateStruct': {'date': '2015-08-04', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2012-10-16', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2015-06', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Subjects identified with MPS IVA or VI', 'timeFrame': '2 years'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['spondyloepiphyseal dysplasia', 'multiple epiphyseal dysplasia', 'bilateral Legg Calve Perthes', 'bilateral proximal femoral epiphyseal dysplasia', 'GALNS'], 'conditions': ['Mucopolysaccharidosis IV A', 'Mucopolysaccharidosis VI']}, 'descriptionModule': {'briefSummary': 'BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency. Investigators propose to identify patients retrospectively and prospectively who carry a diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients, investigators will perform enzyme testing on a blood sample which will identify MPS VI or IVA.\n\nPatients who have an earlier diagnosis of MPS are likely to have better health outcomes with medical management. Therefore, it is important to determine effective diagnostic methods. Investigators believe that bilateral hip involvement should alert the clinician to the possibility of MPS VI and further examination. The purpose of this study is to test the hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS studies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '21 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "Males/females less than or equal to 21 years of age who have been seen at Gillette Children's Specialty Healthcare or Children's Hospitals and Clinics of Minnesota and carry a diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.", 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Less than or equal to 21 years of age\n* Diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.\n\nExclusion Criteria:\n\n* Definitive etiology for above-mentioned diagnosis (i.e. other MPS disease, known chondrodysplasia, Meyer's dysplasia)"}, 'identificationModule': {'nctId': 'NCT01707433', 'briefTitle': 'Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospitals and Clinics of Minnesota"}, 'officialTitle': 'Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease', 'orgStudyIdInfo': {'id': 'MPSHIP'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Diagnosis of hip disease', 'description': 'Diagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia', 'interventionNames': ['Other: Enzyme testing']}], 'interventions': [{'name': 'Enzyme testing', 'type': 'OTHER', 'description': 'Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)', 'armGroupLabels': ['Diagnosis of hip disease']}]}, 'contactsLocationsModule': {'locations': [{'zip': '55404', 'city': 'Minneapolis', 'state': 'Minnesota', 'country': 'United States', 'facility': "Children's Hospitals and Clinics of Minnesota", 'geoPoint': {'lat': 44.97997, 'lon': -93.26384}}, {'zip': '55101', 'city': 'Saint Paul', 'state': 'Minnesota', 'country': 'United States', 'facility': "Gillette Children's Specialty Healthcare", 'geoPoint': {'lat': 44.94441, 'lon': -93.09327}}], 'overallOfficials': [{'name': 'Nancy Mendelsohn, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Children's Hospitals and Clinics of Minnesota"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Children's Hospitals and Clinics of Minnesota", 'class': 'OTHER'}, 'collaborators': [{'name': 'BioMarin Pharmaceutical', 'class': 'INDUSTRY'}, {'name': 'Greenwood Genetic Center', 'class': 'OTHER'}, {'name': "Gillette Children's Specialty Healthcare", 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Medical Director of Genetic Dept', 'investigatorFullName': 'Nancy Mendelsohn', 'investigatorAffiliation': "Children's Hospitals and Clinics of Minnesota"}}}}