Study of Novel Types of Familial Diabetes Insipidus

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00004364

Enrollment

Registered

1999-10-19

Start date

1995-12-31

Completion date

Unknown

Last updated

2006-02-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Diabetes Insipidus

Keywords

diabetes insipidus, endocrine disorders, rare disease

Brief summary

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

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.

Interventions

DRUGdesmopressin

Eligibility

Sex/Gender

ALL

Age

6 Months to 70 Years

Healthy volunteers

Inclusion criteria

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

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026