Study of Novel Types of Familial Diabetes Insipidus

NCT ID: NCT00004364

Last Updated: 2006-02-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

5 participants

Study Classification

OBSERVATIONAL

Study Start Date

1995-12-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Diabetes Insipidus

Keywords

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diabetes insipidus endocrine disorders rare disease

Interventions

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desmopressin

Intervention Type DRUG

Eligibility Criteria

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Inclusion Criteria

* Familial diabetes insipidus (DI) in atypical or novel form, e.g.: Dipsogenic DI Neurohypophyseal DI
* Affected and unaffected members of kindreds eligible
Minimum Eligible Age

6 Months

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Northwestern University

OTHER

Sponsor Role collaborator

National Center for Research Resources (NCRR)

NIH

Sponsor Role lead

Principal Investigators

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Gary L. Robertson

Role: STUDY_CHAIR

Northwestern University

Other Identifiers

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NU-570

Identifier Type: -

Identifier Source: secondary_id

199/11939

Identifier Type: -

Identifier Source: org_study_id