Genotype-Phenotype Correlations in Patients With Alport Syndrome

June 24, 2021 updated by: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

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

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.

Study Overview

Status

Recruiting

Conditions

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.

Study Type

Observational

Enrollment (Anticipated)

8165

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients from Xinhua Hospital, Shanghai Jiao Tong University School of Medicine and other 26 hospitals of China Huadong Region.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Up to 240 weeks

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Up to 240 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2021

Primary Completion (Anticipated)

December 31, 2025

Study Completion (Anticipated)

December 31, 2030

Study Registration Dates

First Submitted

June 3, 2021

First Submitted That Met QC Criteria

June 24, 2021

First Posted (Actual)

July 1, 2021

Study Record Updates

Last Update Posted (Actual)

July 1, 2021

Last Update Submitted That Met QC Criteria

June 24, 2021

Last Verified

May 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • XHEC-C-2020-102-1

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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