An observational study in Alport Syndrome, sponsored by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. Recruiting at 1 site in China. Per ClinicalTrials.gov, last updated 2021-07-01.
Sponsored by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine · Observational
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 COL4A3/COL4A4/COL4A5 genotype on the development of kidney disease.
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 COL4A3/COL4A4/COL4A5)-phenotype (onset age of hearing loss, nephroticrange proteinuria, decline of eGFR, kidney survival and onset age of CKD5) correlations in AS were evaluated.
36 studies on the registry are indexed under Nephritis, Hereditary; 12 are open to participants now.
This study's planned enrollment of 8,165 is above the median of 508 across 16 observational studies indexed under Nephritis, Hereditary.
Browse Nephritis, Hereditary studies →Xinhua Hospital, Shanghai Jiao Tong University School of Medicine is the lead sponsor of 222 studies on the registry; 54 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients from Xinhua Hospital, Shanghai Jiao Tong University School of Medicine and other 26 hospitals of China Huadong Region.
Exclusion Criteria:
Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome
To characterize the variants of COL4A3/COL4A4/COL4A5 in patients with Alport syndrome over the course of up to 240 weeks
Time frame: Up to 240 weeks
Identification genotype-phenotype correlations of Alport Syndrome
Exploring correlations between variants of COL4A3/COL4A4/COL4A5 and the clinical robustness including onset age of hearing loss, nephroticrange proteinuria, decline of eGFR, kidney survival and onset age of CKD5 in Alport syndrome patients
Time frame: Up to 240 weeks
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Xinhua Hospital, Shanghai Jiao Tong University School of Medicine