Genotype-Phenotype Correlations in Patients With Alport Syndrome

Recruiting

• Conditions: Alport Syndrome

• Registration Number: NCT04947813
• Lead Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

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 COL4A3/COL4A4/COL4A5 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 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.

Study Timeline

• Study Start: 2021-01-01
• Status Verified: 2021-05
• Study First Submitted: 2021-06-03
• Study First Submitted QC: 2021-06-24
• Last Update Submitted: 2021-06-24
• Study First Posted: 2021-07-01
• Last Update Posted: 2021-07-01
• Primary Completion: 2025-12-31
• Study Completion: 2030-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 8165

Inclusion Criteria

1. Age: up to 99 Years (Child, Adult, Older Adult)
2. Sex: All;
3. Families and patients with a history of renal hematuria;
4. Those who signed the informed consent.

Exclusion Criteria

1. Polycystic kidney disease, hypertensive nephropathy, etc.;
2. Kidney biopsy is diagnosed as other primary/secondary kidney disease without type IV collagen-related kidney disease, including IgA nephropathy, membranous nephropathy, lupus nephritis, etc.
3. Incomplete medical history or clinical data.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome	Up to 240 weeks	To characterize the variants of COL4A3/COL4A4/COL4A5 in patients with Alport syndrome over the course of up to 240 weeks

Secondary Outcome Measures

Name	Time	Method
Identification genotype-phenotype correlations of Alport Syndrome	Up to 240 weeks	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

Trial Locations

Locations (1)

China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine.; 🇨🇳 Shanghai, China