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Study of Novel Types of Familial Diabetes Insipidus



Study of Novel Types of Familial Diabetes Insipidus

For Condition: Diabetes Insipidus
Status: Suspended
Sponsor(s): National Center for Research Resources (NCRR) , Northwestern University
Synopsis: OBJECTIVES: I. Define the phenotype and genotype of previously unrecognized types of familial diabetes insipidus (FDI) in kindreds with atypical or novel forms of FDI.
Details: PROTOCOL OUTLINE: Participants undergo a series of tests to determine the presence, absence, cause, natural history, clinical status, and mode of inheritance of their type of diabetes insipidus (DI). The studies include measurements of basal fluid intake and urine output, plasma vasopressin during standard fluid deprivation or waterload/saline infusion tests, and changes in water balance during a therapeutic trial of DDAVP. If clinically indicated, echocardiograms and assays of plasma catecholes and renin are also completed. Linkage analysis is performed for all participants; kindreds with the Marfan-like syndrome are also studied for the fibrillin-1 genotype. Participants determined to have DI are treated with desmopressin for 2 days.
Eligibility:
Study Type:
  Observational, Screening
Minimum Age/Maximum Age: 6 Months/70 Years
Genders: Both
Protocol Entry Criteria: - Familial diabetes insipidus (DI) in atypical or novel form, e.g.: Dipsogenic DI Neurohypophyseal DI - Affected and unaffected members of kindreds eligible
Total Enrollment: 5

Location and Contact Information:

Overall Study Official:
GaryRobertson,  Study Chair,  Northwestern University


Additional Information:
Study ID Numbers:
  199/11939;  NU-570
Study Start Date: December 1995
Record last reviewed: October 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00004364

Other Diabetes Insipidus Studies:
1. Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

2. Study of Novel Types of Familial Diabetes Insipidus

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