Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

• Status: Completed
• Trial end date: 1969-12-31
• Target enrollment: 0
• Participant gender: All

Summary

OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II (AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by directing the production of an abnormal preprohormone.

II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys magnocellular neurons because it cannot be folded and processed efficiently.

• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: National Center for Research Resources (NCRR)
• Collaborator: Northwestern University
• Treatments: Arginine Vasopressin; Chlorpropamide; Deamino Arginine Vasopressin

Criteria

• Verified or suspected familial neurohypophyseal diabetes insipidus with or without an identified mutation of the vasopressin-neurophysin II gene Affected and unaffected members of kindreds entered