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| Sponsors and Collaborators: |
National Center for Research Resources (NCRR) Northwestern University |
| Information provided by: | National Center for Research Resources (NCRR) |
| ClinicalTrials.gov Identifier: | NCT00004363 |
Purpose
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 |
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Diabetes Insipidus Diabetes Insipidus, Neurohypophyseal |
Drug: chlorpropamide Drug: desmopressin |
| MedlinePlus related topics: | Diabetes Diabetes Insipidus |
| Drug Information available for: | Desmopressin Desmopressin acetate Chlorpropamide |
| Study Type: | Observational |
| Study Design: | Screening |
| Study Start Date: | December 1995 |
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.
Eligibility
| Ages Eligible for Study: | 6 Months to 70 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Contacts and Locations| United States, Illinois | |||||
| Northwestern University Medical School | |||||
| Chicago, Illinois, United States, 60611 | |||||
| National Center for Research Resources (NCRR) |
| Northwestern University |
| Study Chair: | Gary L. Robertson | Northwestern University |
More Information
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Hansen LK: Genetic basis of familial neurohypophyseal Diabetes Insipidus.
Trends in Endocrinology and Metabolism 8(9): 363-372, 1997.
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Rittig S, Robertson GL, Siggaard C, Kovacs 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.
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McLeod JF, Kovacs 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.
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| Study ID Numbers: | NCRR-M01RR00048-0568, NU-568 |
| First Received: | October 18, 1999 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00004363 |
| Health Authority: | United States: Federal Government |
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