Genotype-Phenotype Correlations in Patients With Alport Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Alport Syndrome. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population
Overview
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.
Primary outcome measures
- Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome [Time frame: Up to 240 weeks]
Secondary outcome measures (1)
- Identification genotype-phenotype correlations of Alport Syndrome [Time frame: Up to 240 weeks]
Eligibility criteria
Inclusion criteria
- Age: up to 99 Years (Child, Adult, Older Adult)
- Sex: All;
- Families and patients with a history of renal hematuria;
- Those who signed the informed consent.
Exclusion criteria
- Polycystic kidney disease, hypertensive nephropathy, etc.;
- 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.
- Incomplete medical history or clinical data.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. — Shanghai
Identifiers
NCT: NCT04947813 · XHEC-C-2020-102-1