Study of Novel Types of Familial Diabetes Insipidus

Status Active, not recruiting

Clinical Trial Summary

OBJECTIVES:

I. Define the phenotype and genotype of previously unrecognized types of familial diabetes insipidus (FDI) in kindreds with atypical or novel forms of FDI.

Clinical Trial Description

PROTOCOL OUTLINE: Participants undergo a series of tests to determine the presence, absence, cause, natural history, clinical status, and mode of inheritance of their type of diabetes insipidus (DI). The studies include measurements of basal fluid intake and urine output, plasma vasopressin during standard fluid deprivation or waterload/saline infusion tests, and changes in water balance during a therapeutic trial of DDAVP. If clinically indicated, echocardiograms and assays of plasma catecholes and renin are also completed.

Linkage analysis is performed for all participants; kindreds with the Marfan-like syndrome are also studied for the fibrillin-1 genotype.

Participants determined to have DI are treated with desmopressin for 2 days. ;

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

Diabetes Insipidus

Clinical Trial Details

NCT number	NCT00004364
Study type	Observational
Source	Office of Rare Diseases (ORD)
Contact
Status	Active, not recruiting
Phase	N/A
Start date	December 1995

View Details

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