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
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|
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.
|Study Type :||Observational|
|Study Start Date :||December 1995|
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
|United States, Illinois|
|Northwestern University Medical School|
|Chicago, Illinois, United States, 60611|
|Study Chair:||Gary L. Robertson||Northwestern University|