Genotype-Phenotype Correlations in Patients With Alport Syndrome

Alport Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04947813
• Other study ID #: XHEC-C-2020-102-1
• Status: Recruiting
• Start date: January 1, 2021
• Est. completion date: December 31, 2030

Study information

• Verified date: May 2021
• Source: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 8165
• Est. completion date: December 31, 2030
• Est. primary completion date: December 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Alport Syndrome
• Nephritis, Hereditary
• Syndrome

Locations

Country	Name	City	State
China	China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine.	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome	To characterize the variants of COL4A3/COL4A4/COL4A5 in patients with Alport syndrome over the course of up to 240 weeks	Up to 240 weeks
Secondary	Identification genotype-phenotype correlations of Alport Syndrome	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	Up to 240 weeks