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Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

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ClinicalTrials.gov Identifier: NCT00004363
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
Northwestern University
Information provided by:
National Center for Research Resources (NCRR)

Brief Summary:

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 or disease Intervention/treatment
Diabetes Insipidus Diabetes Insipidus, Neurohypophyseal Drug: chlorpropamide Drug: desmopressin

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.

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Study Type : Observational
Study Start Date : December 1995

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Months to 70 Years   (Child, Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004363

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United States, Illinois
Northwestern University Medical School
Chicago, Illinois, United States, 60611
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Northwestern University
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Study Chair: Gary L. Robertson Northwestern University
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ClinicalTrials.gov Identifier: NCT00004363    
Other Study ID Numbers: NCRR-M01RR00048-0568
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2003
Keywords provided by National Center for Research Resources (NCRR):
diabetes insipidus
endocrine disorders
rare disease
Additional relevant MeSH terms:
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Diabetes Insipidus
Diabetes Insipidus, Neurogenic
Diabetes Mellitus
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Kidney Diseases
Urologic Diseases
Pituitary Diseases
Deamino Arginine Vasopressin
Antidiuretic Agents
Natriuretic Agents
Physiological Effects of Drugs
Hypoglycemic Agents