Genotype-Phenotype Correlations in Patients With Alport Syndrome

Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04947813

Enrollment

8165

Registered

2021-07-01

Start date

2021-01-01

Completion date

2030-12-31

Last updated

2021-07-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Alport Syndrome

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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

Countries

China

Outcome results