Ignite Creation Date:
2024-05-06 @ 4:18 PM
Last Modification Date:
2024-10-26 @ 2:08 PM
Study NCT ID:
NCT04947813
Status:
RECRUITING
Last Update Posted:
2021-07-01
First Post:
2021-06-03
Brief Title:
Genotype-Phenotype Correlations in Patients With Alport Syndrome
Sponsor:
Xinhua Hospital Shanghai Jiao Tong University School of Medicine
Organization:
Xinhua Hospital Shanghai Jiao Tong University School of Medicine
Study Overview
Official Title:
Association Analysis Between Variants of COL4A3COL4A4COL4A5 and Alport Syndrome in the Han Chinese Population
Status:
RECRUITING
Status Verified Date:
2021-05
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:
Alport syndrome AS is caused by pathogenic variants in the type IV collagen genes COL4A3 COL4A4 and COL4A5 This study aims to enroll families and patients with a history of renal hematuria in 27 hospitals and detect these three genes for AS screening This study also aims to analysis the effect of COL4A3COL4A4COL4A5 genotype on the development of kidney disease
Detailed Description:
Alport syndrome AS is a genetically and phenotypically heterogeneous disorder caused by the mutations in the type IV collagen genes COL4A3 COL4A4 and COL4A5 In this study next generation sequencing is used to screen AS on 8165 participants enrolled from families and patients with a history of renal hematuria in 27 hospitals of China Huadong Region Genotype variants in COL4A3COL4A4COL4A5-phenotype onset age of hearing loss nephroticrange proteinuria decline of eGFR kidney survival and onset age of CKD5 correlations in AS were evaluated
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None