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Genotype-Phenotype Correlations in Patients With Alport Syndrome
Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
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.
Official title: Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
8165
Start Date
2021-01-01
Completion Date
2030-12-31
Last Updated
2021-07-01
Healthy Volunteers
No
Conditions
Locations (1)
China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine.
Shanghai, China