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Trial record 4 of 19 for:    Alport Syndrome

Genotype-Phenotype Correlations in Patients With Alport Syndrome

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ClinicalTrials.gov Identifier: NCT04947813
Recruitment Status : Recruiting
First Posted : July 1, 2021
Last Update Posted : July 1, 2021
Sponsor:
Information provided by (Responsible Party):
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Brief 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.

Condition or disease
Alport Syndrome

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.

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Study Type : Observational
Estimated Enrollment : 8165 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population
Actual Study Start Date : January 1, 2021
Estimated Primary Completion Date : December 31, 2025
Estimated Study Completion Date : December 31, 2030

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04947813


Locations
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China
China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. Recruiting
Shanghai, China
Contact: Gengru Jiang    +86-13917983703    jianggeng-ru@hotmail.com   
Sponsors and Collaborators
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
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Responsible Party: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
ClinicalTrials.gov Identifier: NCT04947813    
Other Study ID Numbers: XHEC-C-2020-102-1
First Posted: July 1, 2021    Key Record Dates
Last Update Posted: July 1, 2021
Last Verified: May 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Syndrome
Nephritis, Hereditary
Disease
Pathologic Processes
Urogenital Abnormalities
Nephritis
Kidney Diseases
Urologic Diseases
Congenital Abnormalities
Collagen Diseases
Connective Tissue Diseases