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| Sponsors and Collaborators: |
National Center for Research Resources (NCRR) Northwestern University |
| Information provided by: | Office of Rare Diseases (ORD) |
| ClinicalTrials.gov Identifier: | NCT00004360 |
Purpose
OBJECTIVES:
I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
| Condition | Intervention |
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Diabetes Insipidus, Nephrogenic |
Drug: chlorothiazide |
| MedlinePlus related topics: | Diabetes Diabetes Insipidus |
| Drug Information available for: | Chlorothiazide Chlorothiazide sodium |
| Study Type: | Observational |
| Study Design: | Screening |
| Study Start Date: | September 1995 |
PROTOCOL OUTLINE: A detailed family history is obtained from all participants. Whenever possible, standard growth curves of affected children are obtained.
Participants then undergo clinical studies of antidiuretic function. A standard fluid deprivation-vasopressin challenge is performed with timed measurements of osmolality, electrolytes, creatinine, and vasopressin. The next day, blood pressure, plasma cyclic AMP, GMP, von Willebrand Factor, Factor VIII, and urine osmolality are measured during a water load desamino-D-arginine vasopressin (dDAVP) infusion test.
Participants with a confirmed diagnosis of congenital diabetes insipidus are then treated with chlorothiazide. Daily urine volume and osmolality are determined before and after therapy. Sodium and fluid are not restricted.
For each family, the entire vasopressin V2 gene of at least 1 affected male, and where possible at least 1 obligate carrier and 1 unaffected brother of a patient is sequenced. In addition, a detailed Xq28 haplotype analysis is done to identify the origin of de novo mutations. If no mutation is found and the disorder is not transmitted in an X-linked mode, both alleles of the gene that codes for aquaporin-II are also sequenced. DNA is collected by mail from as many kindred as possible who do not participate in the clinical studies.
Eligibility
| Ages Eligible for Study: | 6 Months to 70 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
PROTOCOL ENTRY CRITERIA:
--Patient Characteristics--
Contacts and Locations| National Center for Research Resources (NCRR) |
| Northwestern University |
| Study Chair: | Gary L. Robertson | Northwestern University |
More Information
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Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet. 1994 Aug;55(2):278-86.
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Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol Endocrinol. 1997 Nov;11(12):1806-13.
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Robertson GL, McLeod JF, Zerbe RL, et al.: Vasopressin function in heritable
forms of diabetes insipidus. In: Gross P, Richter D, Robertson GL, eds.:
Vasopressin: IV International Vasopressin Conference, May 23-27, 1993, Berlin
Germany. Paris: John Libbey Eurotext, 1993, pp 493-503.
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Wenkert D, Merendino JJ Jr, Shenker A, Thambi N, Robertson GL, Moses AM, Spiegel AM. Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum Mol Genet. 1994 Aug;3(8):1429-30. No abstract available.
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| Study ID Numbers: | 199/11929, NU-513 |
| First Received: | October 18, 1999 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00004360 |
| Health Authority: | United States: Federal Government |
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