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Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

Information source: National Center for Research Resources (NCRR)
ClinicalTrials.gov processed this data on August 23, 2015
Link to the current ClinicalTrials.gov record.

Condition(s) targeted: Diabetes Insipidus; Diabetes Insipidus, Neurohypophyseal

Intervention: chlorpropamide (Drug); desmopressin (Drug)

Phase: N/A

Status: Completed

Sponsored by: National Center for Research Resources (NCRR)

Official(s) and/or principal investigator(s):
Gary L. Robertson, Study Chair, Affiliation: Northwestern University


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.

Clinical Details

Study design: Primary Purpose: Screening

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.


Minimum age: 6 Months. Maximum age: 70 Years. Gender(s): Both.


- 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

Locations and Contacts

Northwestern University Medical School, Chicago, Illinois 60611, United States
Additional Information

Related publications:

Hansen LK, Rittig S, Robertson GL. Genetic basis of familial neurohypophyseal diabetes insipidus. Trends Endocrinol Metab. 1997 Nov;8(9):363-72.

Rittig S, Robertson GL, Siggaard C, Kovács L, Gregersen N, Nyborg J, Pedersen EB. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet. 1996 Jan;58(1):107-17.

McLeod JF, Kovács L, Gaskill MB, Rittig S, Bradley GS, Robertson GL. Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. J Clin Endocrinol Metab. 1993 Sep;77(3):599A-599G.

Starting date: December 1995
Last updated: June 23, 2005

Page last updated: August 23, 2015

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