Genotype-Phenotype Correlations in Patients With Alport Syndrome

Last updated: June 24, 2021
Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Overall Status: Active - Recruiting

Phase

N/A

Condition

Nephritis

Nephropathy

Kidney Disease

Treatment

N/A

Clinical Study ID

NCT04947813
XHEC-C-2020-102-1
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

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

Exclusion Criteria:

  1. Polycystic kidney disease, hypertensive nephropathy, etc.;
  2. Kidney biopsy is diagnosed as other primary/secondary kidney disease without type IVcollagen-related kidney disease, including IgA nephropathy, membranous nephropathy,lupus nephritis, etc.
  3. Incomplete medical history or clinical data.

Study Design

Total Participants: 8165
Study Start date:
January 01, 2021
Estimated Completion Date:
December 31, 2030

Study 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.

Connect with a study center

  • China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine.

    Shanghai,
    China

    Active - Recruiting

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