NCT00004360

Brief Summary

OBJECTIVES: I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 1995

Completed
4.1 years until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
Last Updated

June 24, 2005

Status Verified

December 1, 1999

First QC Date

October 18, 1999

Last Update Submit

June 23, 2005

Conditions

Keywords

diabetes insipidusendocrine disordersrare disease

Interventions

Eligibility Criteria

Age6 Months - 70 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

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: 8037205BACKGROUND
  • 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.

    PMID: 9369448BACKGROUND
  • 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.

    BACKGROUND
  • 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.

    PMID: 7987330BACKGROUND

MeSH Terms

Conditions

Diabetes Insipidus, NephrogenicDiabetes InsipidusEndocrine System DiseasesRare Diseases

Interventions

Chlorothiazide

Condition Hierarchy (Ancestors)

Kidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesPituitary DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

BenzothiadiazinesSulfonamidesSulfonesSulfur CompoundsOrganic ChemicalsThiazidesHeterocyclic Compounds, 2-RingHeterocyclic Compounds, Fused-RingHeterocyclic Compounds

Study Officials

  • Gary L. Robertson

    Northwestern University

    STUDY CHAIR

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