Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus

This study has been completed.
Sponsor:
Collaborator:
Northwestern University
Information provided by:
Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:
NCT00004360
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: December 1999
  Purpose

OBJECTIVES:

I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.


Condition Intervention
Diabetes Insipidus, Nephrogenic
Drug: chlorothiazide

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:


Further study details as provided by Office of Rare Diseases (ORD):

Study Start Date: September 1995
Detailed Description:

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
Criteria

PROTOCOL ENTRY CRITERIA:

  • Known or suspected congenital nephrogenic diabetes insipidus
  • Clinically and genetically unaffected relatives entered as controls

--Patient Characteristics--

  • Age: 6 months to 70 years
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00004360

Sponsors and Collaborators
Northwestern University
Investigators
Study Chair: Gary L. Robertson Northwestern University
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00004360     History of Changes
Other Study ID Numbers: 199/11929, NU-513
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
diabetes insipidus
endocrine disorders
rare disease

Additional relevant MeSH terms:
Diabetes Mellitus
Diabetes Insipidus
Diabetes Insipidus, Neurogenic
Diabetes Insipidus, Nephrogenic
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Kidney Diseases
Urologic Diseases
Pituitary Diseases
Arginine Vasopressin
Chlorothiazide
Hemostatics
Coagulants
Hematologic Agents
Therapeutic Uses
Pharmacologic Actions
Vasoconstrictor Agents
Cardiovascular Agents
Antidiuretic Agents
Natriuretic Agents
Physiological Effects of Drugs
Antihypertensive Agents
Diuretics
Sodium Chloride Symporter Inhibitors
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action

ClinicalTrials.gov processed this record on September 18, 2014