Genotype-Phenotype Correlations in Patients With Alport Syndrome

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.

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Key information

Conditions

Alport Syndrome Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Kidney Diseases Male Urogenital Diseases Nephritis Nephritis, Hereditary Skin and Connective Tissue Diseases Urogenital Abnormalities Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Shanghai, China

Location status: Recruiting

Location contact

Gengru Jiang

CONTACT

[email protected]

+86-13917983703

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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 outcomes

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

Sponsors and collaborators

Lead sponsor

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Other

Registry information

Official study title

Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population

Important dates

Study start: 2021
Primary completion: 2025
Study completion: 2030
First posted: Jul 1, 2021
Registry last updated: Jul 1, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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