Home
Search
Study Topics
Glossary
|
|
|
|
|
Sponsors and Collaborators: |
National Center for Research Resources (NCRR) Northwestern University |
---|---|
Information provided by: | National Center for Research Resources (NCRR) |
ClinicalTrials.gov Identifier: | NCT00004363 |
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.
Condition | Intervention |
---|---|
Diabetes Insipidus Diabetes Insipidus, Neurohypophyseal |
Drug: chlorpropamide Drug: desmopressin |
Study Type: | Observational |
Study Design: | Screening |
Study Start Date: | December 1995 |
PROTOCOL OUTLINE: This project involves 2 clinical studies. Members of known kindreds participate in Study I; members of kindreds who have not been surveyed, genotyped, or phenotyped participate in Study II. In Study I, participants undergo clinical, hormonal, radiologic, and biochemical studies. Assessment on unrestricted fluid intake includes body weight, urine volume, osmolality, creatinine, sodium, potassium, urea, glucose, arginine-vasopressin (AVP), oxytocin, and aquaporin-II.
Participants with diabetes insipidus (DI) undergo a standard fluid deprivation test; those without DI undergo standard water load and hypertonic saline testing. Previously untreated DI patients may be given intranasal or subcutaneous desmopressin or oral chlorpropamide (adults only) for 2 or 3 days.
Magnetic resonance imaging of the pituitary-hypothalamic area is performed on all patients with and without gadolinium.
Infants and children are studied annually for the first 5 years or until they develop DI. Affected adults are studied every 2-5 years.
Unaffected adults are re-tested only if they subsequently report de novo symptoms suggestive of DI.
In Study II, participants undergo similar genotype and phenotype testing. Kindreds demonstrating the familial neurohypophyseal diabetes insipidus phenotype and genotype are added to Study I. Kindreds found to have a different type of DI are directed into a companion protocol.
Ages Eligible for Study: | 6 Months to 70 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
United States, Illinois | |
Northwestern University Medical School | |
Chicago, Illinois, United States, 60611 |
Study Chair: | Gary L. Robertson | Northwestern University |
Study ID Numbers: | NCRR-M01RR00048-0568, NU-568 |
Study First Received: | October 18, 1999 |
Last Updated: | June 23, 2005 |
ClinicalTrials.gov Identifier: | NCT00004363 History of Changes |
Health Authority: | United States: Federal Government |
diabetes insipidus endocrine disorders rare disease |
Metabolic Diseases Pituitary Diseases Diabetes Mellitus Rare Diseases Endocrine System Diseases Cardiovascular Agents Diabetes Insipidus, Neurogenic Hemostatics Arginine Vasopressin Hypoglycemic Agents |
Urologic Diseases Chlorpropamide Diabetes Insipidus Deamino Arginine Vasopressin Vasopressins Diabetes Insipidus Primary Central Kidney Diseases Endocrinopathy Glucose Metabolism Disorders Metabolic Disorder |
Metabolic Diseases Coagulants Pituitary Diseases Hematologic Agents Physiological Effects of Drugs Diabetes Mellitus Endocrine System Diseases Cardiovascular Agents Diabetes Insipidus, Neurogenic Hemostatics Pharmacologic Actions |
Hypoglycemic Agents Urologic Diseases Natriuretic Agents Diabetes Insipidus Chlorpropamide Therapeutic Uses Deamino Arginine Vasopressin Kidney Diseases Antidiuretic Agents Glucose Metabolism Disorders |