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

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.

Mayo Clinic Location Status

Jacksonville, Fla.

Mayo Clinic principal investigator

Ibrahim Khambati, M.D., M.B.A.

Contact us for the latest status

More information

Publications

Publications are currently not available
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CLS-20609245

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