Ignite Creation Date:
2025-12-24 @ 2:19 PM
Ignite Modification Date:
2025-12-25 @ 7:37 PM
Study NCT ID:
NCT01783795
Status:
COMPLETED
Last Update Posted:
2020-04-06
First Post:
2013-01-23
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Dent Disease Mutation Genotyping
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D057973', 'term': 'Dent Disease'}], 'ancestors': [{'id': 'D015499', 'term': 'Renal Tubular Transport, Inborn Errors'}, {'id': 'D007674', 'term': 'Kidney Diseases'}, {'id': 'D014570', 'term': 'Urologic Diseases'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D005820', 'term': 'Genetic Testing'}], 'ancestors': [{'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'SCREENING', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 180}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2020-04', 'completionDateStruct': {'date': '2019-07', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2020-04-02', 'studyFirstSubmitDate': '2013-01-23', 'studyFirstSubmitQcDate': '2013-02-01', 'lastUpdatePostDateStruct': {'date': '2020-04-06', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2013-02-05', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2019-07', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene', 'timeFrame': '4 years'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Dent', 'Dents', 'Dent Disease', 'Dent genetic testing', 'CLCN5', 'OCRL1', 'Genetic testing for Dent Disease', 'Hereditary study for Dent Disease'], 'conditions': ['Dent Disease']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://www.rarekidneystones.org', 'label': 'Rare Kidney Stone Consortium'}]}, 'descriptionModule': {'briefSummary': 'This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.', 'detailedDescription': "During this study visit, the investigator will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from the subject's arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. The investigator will use the isolated DNA to try to identify the gene that is defective in Dent Disease by comparing it with the structure of genes in normal individuals, patients with Dent Disease, and family members for Dent Disease."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* The patient has been diagnosed, or in the process of being diagnosed with Dent Disease.\n* The patient has a family member diagnosed with Dent Disease.\n\nExclusion Criteria:\n\n\\- None'}, 'identificationModule': {'nctId': 'NCT01783795', 'briefTitle': 'Dent Disease Mutation Genotyping', 'organization': {'class': 'OTHER', 'fullName': 'Mayo Clinic'}, 'officialTitle': 'Screening for Dent Disease Mutations in Patients With Proteinuria', 'orgStudyIdInfo': {'id': '10-006442'}, 'secondaryIdInfos': [{'id': 'U54DK083908', 'link': 'https://reporter.nih.gov/quickSearch/U54DK083908', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'Genetic Analysis', 'description': 'Genetic Analysis', 'interventionNames': ['Other: Genetic Analysis']}], 'interventions': [{'name': 'Genetic Analysis', 'type': 'OTHER', 'armGroupLabels': ['Genetic Analysis']}]}, 'contactsLocationsModule': {'locations': [{'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'country': 'United States', 'facility': 'Mayo Clinic', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}], 'overallOfficials': [{'name': 'John C. Lieske, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Mayo Clinic'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Mayo Clinic', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)', 'class': 'NIH'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'M.D.', 'investigatorFullName': 'John Lieske', 'investigatorAffiliation': 'Mayo Clinic'}}}}