Ignite Creation Date:
2024-05-05 @ 11:22 PM
Last Modification Date:
2024-10-26 @ 10:32 AM
Study NCT ID:
NCT01312727
Status:
COMPLETED
Last Update Posted:
2016-08-26
First Post:
2011-02-22
Brief Title:
Hereditary Tubulointerstitial Nephritis
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Assistance Publique - Hôpitaux de Paris
Study Overview
Official Title:
Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
Status:
COMPLETED
Status Verified Date:
2016-01
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:
NTIH
Brief Summary:
The aim of this study is to identify families with hereditary chronic tubulointerstitial renal diseases characterize the phenotype and screen for mutations in known genesis UMOD REN TCF2 NPHP1 Genome wide analysis will be performed in families without mutations identified
Detailed Description:
Inclusion of affected subjects with familial history of chronic renal failure early gout renal cysts in several hospital in France
Characterization of the phenotype dosage of the urinary uromodulin in all subjects
Collect DNA samples
Screen for UMO mutations first
Then for REN or TCF2 depending on the phenotype
Validate the use of the dosage of urinary uromodulin for the diagnosis of UMOD associated disease
Identify new genes responsible for hereditary HTIN Hereditary Tubulointerstitial Nephritis
Characterization of the phenotype dosage of the urinary uromodulin in all subjects
Collect DNA samples
Screen for UMO mutations first
Then for REN or TCF2 depending on the phenotype
Validate the use of the dosage of urinary uromodulin for the diagnosis of UMOD associated disease
Identify new genes responsible for hereditary HTIN Hereditary Tubulointerstitial Nephritis
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None