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ELUCIDATE-Epigenetics; Lupus Urine Cells in Decoding APOL1 Transmutation Effect

IRB Number: 2022-0690

December 07, 2023

Institutional Review Board, Hospital for Special Surgery

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Principal Investigator

Ashira D. Blazer, MD, MSCI

Co-Investigators

Christele Felix
Timothy Niewold
Jane Salmon
Mary Kuntz Crow

Summary

Ancestrally African (AA) lupus patients suffer disproportionately from lupus kidney disease, known as lupus nephritis (LN), compared to Europeans. About 13% of AA people have two mutations in a gene called Apolipoprotein L1 (APOL1). These mutations provide protection against a parasitic infection that causes African sleeping sickness, but may also damage the kidneys. AA LN patients who have the APOL1 mutations are twice as likely to need dialysis or a kidney transplant even without more active lupus. Our current tests for LN do not identify patients who also have kidney disease due to APOL1 mutations. The goal of this study is to collect urine which contains cells discarded from the kidney. DNA from these cells may indicate which patients have LN alone and which have kidney damage due to APOL1 mutations.
We will enroll a sample of 40 participants. A urine sample will be asked for, for research purposes only, from the patient at the time of standard of care labs.

Inclusion/Exclusion Criteria

Inclusion:

  • Age 18–75 years old
  • SLE by the ACR revised criteria or the SLICC criteria
  • Of self-reported African Ancestry. The study will be limited to this group because they are the most likely to have the APOL1 mutations.

​​​​​​​Exclusion:

  • Active urinary tract infection

Contact Information

Christele Felix
felixc@hss.edu
646.714.6196