Actively Recruiting
Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population
Led by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine · Updated on 2021-07-01
8165
Participants Needed
1
Research Sites
260 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Alport syndrome (AS) is a genetic disorder caused by mutations in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This research aims to enroll families and patients with a history of renal hematuria from 27 hospitals to screen for these gene variants and understand how different gene types affect kidney disease development. The study focuses on the Han Chinese population and examines links between genotype and clinical features like hearing loss, proteinuria, kidney function decline, and kidney survival. Participants undergo next generation sequencing to detect variants in COL4A3, COL4A4, and COL4A5. This observational study includes up to 8,165 individuals with a family or personal history of renal hematuria. The study tracks genotype-phenotype relationships over time, focusing on the onset age of hearing loss, proteinuria severity, decline in estimated glomerular filtration rate (eGFR), kidney survival, and progression to chronic kidney disease stage 5. Participants provide medical history and clinical data during the study, which may last up to 240 weeks. Researchers evaluate genetic findings alongside clinical outcomes to better understand AS progression. The study excludes individuals with other kidney diseases or incomplete data. The primary outcome is identifying COL4A3/COL4A4/COL4A5 gene variants, while secondary outcomes examine how these variants relate to disease characteristics and progression.
CONDITIONS
Brief Title
Genotype-Phenotype Correlations in Patients With Alport Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age up to 99 years (child, adult, older adult)
- All sexes
- Families and patients with a history of renal hematuria
- Signed informed consent form
You will not qualify if you...
- Diagnosis of polycystic kidney disease, hypertensive nephropathy, or similar kidney diseases
- Kidney biopsy showing other primary or secondary kidney diseases unrelated to type IV collagen, including IgA nephropathy, membranous nephropathy, or lupus nephritis
- Incomplete medical history or clinical data
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 240 weeks
Participants undergo genetic screening using next generation sequencing to identify variants in COL4A3, COL4A4, and COL4A5 genes related to Alport Syndrome.
1 visit for genetic testing
Duration - Up to 240 weeks
Participants are observed for genotype-phenotype correlations including hearing loss onset, proteinuria, kidney function decline, and kidney survival over time.
Follow-up visits as needed during the observation period
Trial Site Locations
Total: 1 location
1
China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine.
Shanghai, China
Actively Recruiting
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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