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Home > "S" Clinical Trials Conditions > Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus  Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
For Condition: Diabetes Insipidus, Nephrogenic
Status: Completed
Sponsor(s): National Center for Research Resources (NCRR) , Northwestern University
Synopsis: OBJECTIVES: I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
Details: 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:
Study Type: Observational, Screening
Minimum Age/Maximum Age: 6 Months/70 Years
Genders: Both
Protocol Entry 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
Total Enrollment:
Location and Contact Information:
Overall Study Official:
GaryRobertson, Study Chair, Northwestern University
Additional Information:
Study ID Numbers: 199/11929; NU-513
Study Start Date: September 1995
Record last reviewed: December 1999
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00004360
Other Diabetes Insipidus, Nephrogenic Studies:
1. Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
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Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
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