Study of Novel Types of Familial Diabetes Insipidus

The recruitment status of this study is unknown because the information has not been verified recently.
Verified February 2006 by Office of Rare Diseases (ORD).
Recruitment status was  Active, not recruiting
Northwestern University
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: February 21, 2006
Last verified: February 2006


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

Condition Intervention
Diabetes Insipidus
Drug: desmopressin

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 5
Study Start Date: December 1995
Detailed 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.


Ages Eligible for Study:   6 Months to 70 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Familial diabetes insipidus (DI) in atypical or novel form, e.g.: Dipsogenic DI Neurohypophyseal DI
  • Affected and unaffected members of kindreds eligible
  Contacts and Locations
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Please refer to this study by its identifier: NCT00004364

Sponsors and Collaborators
National Center for Research Resources (NCRR)
Northwestern University
Study Chair: Gary L. Robertson Northwestern University
  More Information Identifier: NCT00004364     History of Changes
Other Study ID Numbers: 199/11939  NU-570 
Study First Received: October 18, 1999
Last Updated: February 21, 2006
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
diabetes insipidus
endocrine disorders
rare disease

Additional relevant MeSH terms:
Diabetes Insipidus
Endocrine System Diseases
Kidney Diseases
Pituitary Diseases
Urologic Diseases
Arginine Vasopressin
Antidiuretic Agents
Natriuretic Agents
Physiological Effects of Drugs
Vasoconstrictor Agents processed this record on May 25, 2016