Clinical Trial: Study of Novel Types of Familial Diabetes Insipidus

Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational

Official Title:

Brief 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.

Detailed Summary:

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.

Sponsor: National Center for Research Resources (NCRR)

Current Primary Outcome:

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Office of Rare Diseases (ORD)

Dates:
Date Received: October 18, 1999
Date Started: December 1995
Date Completion:
Last Updated: February 21, 2006
Last Verified: February 2006