Ignite Creation Date:
2025-12-25 @ 2:09 AM
Ignite Modification Date:
2025-12-27 @ 11:57 PM
Study NCT ID:
NCT00004360
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D018500', 'term': 'Diabetes Insipidus, Nephrogenic'}, {'id': 'D003919', 'term': 'Diabetes Insipidus'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'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': 'D010900', 'term': 'Pituitary Diseases'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D002740', 'term': 'Chlorothiazide'}], 'ancestors': [{'id': 'D001581', 'term': 'Benzothiadiazines'}, {'id': 'D013449', 'term': 'Sulfonamides'}, {'id': 'D013450', 'term': 'Sulfones'}, {'id': 'D013457', 'term': 'Sulfur Compounds'}, {'id': 'D009930', 'term': 'Organic Chemicals'}, {'id': 'D049971', 'term': 'Thiazides'}, {'id': 'D006574', 'term': 'Heterocyclic Compounds, 2-Ring'}, {'id': 'D000072471', 'term': 'Heterocyclic Compounds, Fused-Ring'}, {'id': 'D006571', 'term': 'Heterocyclic Compounds'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL'}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '1995-09'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '1999-12', 'lastUpdateSubmitDate': '2005-06-23', 'studyFirstSubmitDate': '1999-10-18', 'studyFirstSubmitQcDate': '1999-10-18', 'lastUpdatePostDateStruct': {'date': '2005-06-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '1999-10-19', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['diabetes insipidus', 'endocrine disorders', 'rare disease'], 'conditions': ['Diabetes Insipidus, Nephrogenic']}, 'referencesModule': {'references': [{'pmid': '8037205', 'type': 'BACKGROUND', 'citation': 'Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet. 1994 Aug;55(2):278-86.'}, {'pmid': '9369448', 'type': 'BACKGROUND', 'citation': 'Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol Endocrinol. 1997 Nov;11(12):1806-13. doi: 10.1210/mend.11.12.0017.'}, {'type': 'BACKGROUND', 'citation': 'Robertson GL, McLeod JF, Zerbe RL, et al.: Vasopressin function in heritable forms of diabetes insipidus. In: Gross P, Richter D, Robertson GL, eds.: Vasopressin: IV International Vasopressin Conference, May 23-27, 1993, Berlin Germany. Paris: John Libbey Eurotext, 1993, pp 493-503.'}, {'pmid': '7987330', 'type': 'BACKGROUND', 'citation': 'Wenkert D, Merendino JJ Jr, Shenker A, Thambi N, Robertson GL, Moses AM, Spiegel AM. Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum Mol Genet. 1994 Aug;3(8):1429-30. doi: 10.1093/hmg/3.8.1429. No abstract available.'}]}, 'descriptionModule': {'briefSummary': 'OBJECTIVES:\n\nI. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.', 'detailedDescription': 'PROTOCOL OUTLINE: A detailed family history is obtained from all participants. Whenever possible, standard growth curves of affected children are obtained.\n\nParticipants then undergo clinical studies of antidiuretic function. A standard fluid deprivation-vasopressin challenge is performed with timed measurements of osmolality, electrolytes, creatinine, and vasopressin. The next day, blood pressure, plasma cyclic AMP, GMP, von Willebrand Factor, Factor VIII, and urine osmolality are measured during a water load desamino-D-arginine vasopressin (dDAVP) infusion test.\n\nParticipants with a confirmed diagnosis of congenital diabetes insipidus are then treated with chlorothiazide. Daily urine volume and osmolality are determined before and after therapy. Sodium and fluid are not restricted.\n\nFor each family, the entire vasopressin V2 gene of at least 1 affected male, and where possible at least 1 obligate carrier and 1 unaffected brother of a patient is sequenced. In addition, a detailed Xq28 haplotype analysis is done to identify the origin of de novo mutations. If no mutation is found and the disorder is not transmitted in an X-linked mode, both alleles of the gene that codes for aquaporin-II are also sequenced. DNA is collected by mail from as many kindred as possible who do not participate in the clinical studies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '70 Years', 'minimumAge': '6 Months', 'healthyVolunteers': True, 'eligibilityCriteria': 'PROTOCOL ENTRY CRITERIA:\n\n* Known or suspected congenital nephrogenic diabetes insipidus\n* Clinically and genetically unaffected relatives entered as controls\n\n--Patient Characteristics--\n\n* Age: 6 months to 70 years'}, 'identificationModule': {'nctId': 'NCT00004360', 'briefTitle': 'Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus', 'organization': {'class': 'NIH', 'fullName': 'Office of Rare Diseases (ORD)'}, 'orgStudyIdInfo': {'id': '199/11929'}, 'secondaryIdInfos': [{'id': 'NU-513'}]}, 'armsInterventionsModule': {'interventions': [{'name': 'chlorothiazide', 'type': 'DRUG'}]}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Gary L. Robertson', 'role': 'STUDY_CHAIR', 'affiliation': 'Northwestern University'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Center for Research Resources (NCRR)', 'class': 'NIH'}, 'collaborators': [{'name': 'Northwestern University', 'class': 'OTHER'}]}}}