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Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus

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ClinicalTrials.gov Identifier: NCT00004360
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
Sponsor:
Collaborator:
Northwestern University
Information provided by:
Office of Rare Diseases (ORD)

Tracking Information
First Submitted Date October 18, 1999
First Posted Date October 19, 1999
Last Update Posted Date June 24, 2005
Study Start Date September 1995
Primary Completion Date Not Provided
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Official Title Not Provided
Brief Summary

OBJECTIVES:

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

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.

Study Type Observational
Study Design Not Provided
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Not Provided
Study Population Not Provided
Condition Diabetes Insipidus, Nephrogenic
Intervention Drug: chlorothiazide
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Enrollment Not Provided
Original Enrollment Not Provided
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 6 Months to 70 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT00004360
Other Study ID Numbers 199/11929
NU-513
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Not Provided
Study Sponsor National Center for Research Resources (NCRR)
Collaborators Northwestern University
Investigators
Study Chair: Gary L. Robertson Northwestern University
PRS Account Office of Rare Diseases (ORD)
Verification Date December 1999