Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Primary Purpose
Diabetes Insipidus, Nephrogenic
Status
Completed
Phase
Locations
Study Type
Observational
Intervention
chlorothiazide
Sponsored by
About this trial
This is an observational trial for Diabetes Insipidus, Nephrogenic focused on measuring diabetes insipidus, endocrine disorders, rare disease
Eligibility Criteria
PROTOCOL ENTRY CRITERIA: Known or suspected congenital nephrogenic diabetes insipidus Clinically and genetically unaffected relatives entered as controls --Patient Characteristics-- Age: 6 months to 70 years
Sites / Locations
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00004360
First Posted
October 18, 1999
Last Updated
June 23, 2005
Sponsor
National Center for Research Resources (NCRR)
Collaborators
Northwestern University
1. Study Identification
Unique Protocol Identification Number
NCT00004360
Brief Title
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Study Type
Observational
2. Study Status
Record Verification Date
December 1999
Overall Recruitment Status
Completed
Study Start Date
September 1995 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
National Center for Research Resources (NCRR)
Collaborators
Northwestern University
4. Oversight
5. Study Description
Brief Summary
OBJECTIVES:
I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
Detailed Description
PROTOCOL OUTLINE: A detailed family history is obtained from all participants. Whenever possible, standard growth curves of affected children are obtained.
Participants 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.
Participants 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.
For 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Diabetes Insipidus, Nephrogenic
Keywords
diabetes insipidus, endocrine disorders, rare disease
7. Study Design
8. Arms, Groups, and Interventions
Intervention Type
Drug
Intervention Name(s)
chlorothiazide
10. Eligibility
Sex
All
Minimum Age & Unit of Time
6 Months
Maximum Age & Unit of Time
70 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
PROTOCOL ENTRY CRITERIA:
Known or suspected congenital nephrogenic diabetes insipidus
Clinically and genetically unaffected relatives entered as controls
--Patient Characteristics--
Age: 6 months to 70 years
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Gary L. Robertson
Organizational Affiliation
Northwestern University
Official's Role
Study Chair
12. IPD Sharing Statement
Citations:
PubMed Identifier
8037205
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.
Results Reference
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PubMed Identifier
9369448
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.
Results Reference
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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.
Results Reference
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PubMed Identifier
7987330
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.
Results Reference
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Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
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