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Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

This study has been completed.
Northwestern University
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: December 2003

OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II (AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by directing the production of an abnormal preprohormone.

II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys magnocellular neurons because it cannot be folded and processed efficiently.

Condition Intervention
Diabetes Insipidus Diabetes Insipidus, Neurohypophyseal Drug: chlorpropamide Drug: desmopressin

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Study Start Date: December 1995
Detailed Description:

PROTOCOL OUTLINE: This project involves 2 clinical studies. Members of known kindreds participate in Study I; members of kindreds who have not been surveyed, genotyped, or phenotyped participate in Study II.

In Study I, participants undergo clinical, hormonal, radiologic, and biochemical studies. Assessment on unrestricted fluid intake includes body weight, urine volume, osmolality, creatinine, sodium, potassium, urea, glucose, arginine-vasopressin (AVP), oxytocin, and aquaporin-II.

Participants with diabetes insipidus (DI) undergo a standard fluid deprivation test; those without DI undergo standard water load and hypertonic saline testing.

Previously untreated DI patients may be given intranasal or subcutaneous desmopressin or oral chlorpropamide (adults only) for 2 or 3 days.

Magnetic resonance imaging of the pituitary-hypothalamic area is performed on all patients with and without gadolinium.

Infants and children are studied annually for the first 5 years or until they develop DI. Affected adults are studied every 2-5 years. Unaffected adults are re-tested only if they subsequently report de novo symptoms suggestive of DI.

In Study II, participants undergo similar genotype and phenotype testing. Kindreds demonstrating the familial neurohypophyseal diabetes insipidus phenotype and genotype are added to Study I. Kindreds found to have a different type of DI are directed into a companion protocol.


Ages Eligible for Study:   6 Months to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Verified or suspected familial neurohypophyseal diabetes insipidus with or without an identified mutation of the vasopressin-neurophysin II gene Affected and unaffected members of kindreds entered
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Please refer to this study by its identifier: NCT00004363

United States, Illinois
Northwestern University Medical School
Chicago, Illinois, United States, 60611
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Northwestern University
Study Chair: Gary L. Robertson Northwestern University
  More Information

Publications: Identifier: NCT00004363     History of Changes
Other Study ID Numbers: NCRR-M01RR00048-0568
Study First Received: October 18, 1999
Last Updated: June 23, 2005

Keywords provided by National Center for Research Resources (NCRR):
diabetes insipidus
endocrine disorders
rare disease

Additional relevant MeSH terms:
Diabetes Mellitus
Diabetes Insipidus
Diabetes Insipidus, Neurogenic
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Kidney Diseases
Urologic Diseases
Pituitary Diseases
Deamino Arginine Vasopressin
Arginine Vasopressin
Antidiuretic Agents
Natriuretic Agents
Physiological Effects of Drugs
Vasoconstrictor Agents
Hypoglycemic Agents processed this record on September 21, 2017