Ignite Creation Date:
2024-05-05 @ 11:07 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004360
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Brief Title:
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Sponsor:
National Center for Research Resources NCRR
Organization:
Office of Rare Diseases ORD
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
1999-12
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 the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus
I Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus
Detailed Description:
PROTOCOL OUTLINE A detailed family history is obtained from all participants Whenever possible standard growth curves of affected children are obtained
Participants then undergo clinical studies of antidiuretic function A standard fluid deprivation-vasopressin challenge is performed with timed measurements of osmolality electrolytes creatinine and vasopressin The next day blood pressure plasma cyclic AMP GMP von Willebrand Factor Factor VIII and urine osmolality are measured during a water load desamino-D-arginine vasopressin dDAVP infusion test
Participants with a confirmed diagnosis of congenital diabetes insipidus are then treated with chlorothiazide Daily urine volume and osmolality are determined before and after therapy Sodium and fluid are not restricted
For each family the entire vasopressin V2 gene of at least 1 affected male and where possible at least 1 obligate carrier and 1 unaffected brother of a patient is sequenced In addition a detailed Xq28 haplotype analysis is done to identify the origin of de novo mutations If no mutation is found and the disorder is not transmitted in an X-linked mode both alleles of the gene that codes for aquaporin-II are also sequenced DNA is collected by mail from as many kindred as possible who do not participate in the clinical studies
Participants then undergo clinical studies of antidiuretic function A standard fluid deprivation-vasopressin challenge is performed with timed measurements of osmolality electrolytes creatinine and vasopressin The next day blood pressure plasma cyclic AMP GMP von Willebrand Factor Factor VIII and urine osmolality are measured during a water load desamino-D-arginine vasopressin dDAVP infusion test
Participants with a confirmed diagnosis of congenital diabetes insipidus are then treated with chlorothiazide Daily urine volume and osmolality are determined before and after therapy Sodium and fluid are not restricted
For each family the entire vasopressin V2 gene of at least 1 affected male and where possible at least 1 obligate carrier and 1 unaffected brother of a patient is sequenced In addition a detailed Xq28 haplotype analysis is done to identify the origin of de novo mutations If no mutation is found and the disorder is not transmitted in an X-linked mode both alleles of the gene that codes for aquaporin-II are also sequenced DNA is collected by mail from as many kindred as possible who do not participate in the clinical studies
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-513 | None | None | None |