Ignite Creation Date:
2024-05-05 @ 11:08 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004363
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Brief Title:
Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus
Sponsor:
National Center for Research Resources NCRR
Organization:
National Center for Research Resources NCRR
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2003-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
II Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys magnocellular neurons because it cannot be folded and processed efficiently
Detailed Description:
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
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
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| NU-568 | None | None | None |