Understanding genetic factors in Alport Syndrome
Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population
This study is trying to see how certain gene changes in families with Alport syndrome affect kidney problems and hearing loss.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 8165 (estimated) |
| Sex | All |
| Sponsor | Xinhua Hospital, Shanghai Jiao Tong University School of Medicine Academic / other |
| Locations | 1 site (Shanghai) |
| Trial ID | NCT04947813 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Alport syndrome, a genetic disorder caused by mutations in specific collagen genes. It aims to enroll families and patients with a history of renal hematuria across 27 hospitals in the Huadong region of China. Using next-generation sequencing, the study will analyze the relationship between genetic variants in the COL4A3, COL4A4, and COL4A5 genes and various clinical outcomes, such as kidney disease progression and hearing loss. The goal is to better understand how these genetic factors influence the disease's phenotype.
Who should consider this trial
Good fit: Ideal candidates include individuals and families with a history of renal hematuria, regardless of age or sex.
Not a fit: Patients with other primary or secondary kidney diseases, such as polycystic kidney disease or lupus nephritis, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic screening and management strategies for patients with Alport syndrome.
How similar studies have performed: Other studies have shown success in understanding genotype-phenotype correlations in genetic disorders, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Shanghai
- China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. — Shanghai, China (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.