Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
2 other identifiers
observational
N/A
0 countries
N/A
Brief Summary
OBJECTIVES: I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
Trial Health
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Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 1, 1995
CompletedFirst Submitted
Initial submission to the registry
October 18, 1999
CompletedFirst Posted
Study publicly available on registry
October 19, 1999
CompletedJune 24, 2005
December 1, 1999
October 18, 1999
June 23, 2005
Conditions
Keywords
Interventions
Eligibility Criteria
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Sponsors & Collaborators
Related Publications (4)
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: 8037205BACKGROUNDSadeghi 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.
PMID: 9369448BACKGROUNDRobertson 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.
BACKGROUNDWenkert 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.
PMID: 7987330BACKGROUND
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- STUDY CHAIR
Gary L. Robertson
Northwestern University
Study Design
- Study Type
- observational
- Sponsor Type
- NIH
Study Record Dates
First Submitted
October 18, 1999
First Posted
October 19, 1999
Study Start
September 1, 1995
Last Updated
June 24, 2005
Record last verified: 1999-12