A Study Of Diagnostic Utility Of Whole Genome Sequencing In Biopsy-Proven Thin Basement Membrane Nephropathy, Microscopic Hematuria And/or Proteinuria, And Negative Targeted Nephropathy Gene Panel Testing
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Site IRB
- Jacksonville, Florida: 26-007496
About this study
The purpose of this study is to prospectively evaluate the diagnostic utility of whole genome sequencing in patients with biopsy-proven thin basement membrane nephropathy who have persistent microscopic hematuria and/or proteinuria and previously negative results from a 385-gene targeted nephropathy exome panel.
Participation eligibility
Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
Inclusion Criteria:
Age 18 years or older
Prior kidney biopsy showing thin basement membrane nephropathy/thin basement membrane findings, as documented in the medical record or pathology report
Persistent microscopic hematuria, with or without proteinuria, documented in the medical record
Prior clinical genetic testing using the 385-gene targeted nephropathy exome panel
Prior 385-gene targeted nephropathy exome panel result was negative or non-diagnostic
Able and willing to provide informed consent
Able and willing to provide a DNA sample using a mailed collection kit
Exclusion Criteria:
Younger than 18 years of age
No prior 385-gene targeted nephropathy exome panel testing
Prior 385-gene targeted nephropathy exome panel identified a diagnostic positive result that explains the renal phenotype
No documented persistent microscopic hematuria
No biopsy-proven thin basement membrane nephropathy/thin basement membrane finding
Unable to provide informed consent at the time of enrollment
Prisoner or individual under supervised correctional custody
Unable or unwilling to provide a DNA sample using the mailed collection kit
Note: Other protocol defined Inclusion/Exclusion Criteria may apply.
Eligibility last updated 06/23/2026. Questions regarding updates should be directed to the study team contact.
Participating Mayo Clinic locations
Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.
More information
Publications
Publications are currently not available