Genotype-Phenotype Correlations in Patients With Alport Syndrome

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.

Full Title of Study: “Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 31, 2025

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.

Clinical Trial Outcome Measures

Primary Measures

  • Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome
    • Time Frame: 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 Measures

  • Identification genotype-phenotype correlations of Alport Syndrome
    • Time Frame: 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

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
  • Provider of Information About this Clinical Study
    • Sponsor

Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

At TrialBulletin.com, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.