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APOL1 Genetic Testing in African Americans

NCT05656261 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2025-03-20

No results posted yet for this study

Summary

Recent breakthroughs in medical genetics have discovered that a portion of kidney failure affecting the Black community is mediated by coding variants in a gene called apolipoprotein L1 (APOL1) - and that genetic variants, not race - account for increased risk. For APOL1 genetic testing to be applied in a manner that improves patient care and outcomes, more information is needed regarding associations of genotype with clinical parameters related to kidney health. Further, understanding patient perceptions about knowledge of the results of APOL1 genetic testing, and how that impacts patient engagement with management of hypertension and other renal risk factors, is urgently needed.

* In a Phase 1 pilot study, we offered APOL1 genetic testing to Black patients seen in our Hypertension and Nephrology clinics at Saint Louis University, an academic medical center that serves the local urban community, and surveyed patients on attitudes and concerns about APOL1 genetic testing. 144 participants were enrolled in Phase 1.
* In the Phase 2 study, we will advance this important work in our community by offering participation to a broader patient base, including patients seen in Internal and Family Medicine clinics, SLU Hospital, as well as to first-degree relatives and spouses of SLUCare participants. This expansion seeks to advance understanding of environment-gene interactions, improve risk prediction, and target management of potentially modifiable risk factors.

Conditions

  • Genetic Predisposition
  • Chronic Kidney Diseases
  • Nephropathy
  • APOL1 Associated Kidney Disease
  • Disparities

Interventions

GENETIC

Assessment of the frequency of APOL-1 renal risk variant in the black population, and evaluating their attitudes about genetic testing and APOL1 genotype via self-administered surveys

On day of enrollment, participants will have 1 blood sample obtained to extract DNA for determining their APOL1 genotype, and will answer a survey asking about their attitudes/beliefs on kidney disease, hypertension, and diabetes, as well as genetic testing. Participants will receive their results via telephone shortly thereafter, and then complete the same survey at 3 months and 12 months post-enrollment, in order to evaluate if any of their attitudes or beliefs have changed since knowing their APOL1 genetic test result. Those who are interested, specifically those who carry the homozygous or compound heterozygous renal risk variant, will have the option to speak with a designated genetic counselor who is associated with the study site and approved by the IRB.

Sponsors & Collaborators

  • Mid-America Transplant

    collaborator OTHER

  • St. Louis University

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
90 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-01-24
Primary Completion
2026-06-30
Completion
2027-06-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05656261 on ClinicalTrials.gov