APOL1 Genetic Testing in African Americans

NCT05656261 | Recruiting

• 1 other identifier: 29188
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

APOL1 Renal Risk Variants

Outcome Measures

Primary Outcomes (1)

• Determine frequency of APOL1 renal risk variants in black population

  To assess the frequency and sociodemographic/clinical correlates of APOL1 renal risk variants in a local urban population of Black patients seen in Nephrology, Hypertension, Internal/Family Medicine clinics, or University Hospital.

  1 year

Secondary Outcomes (1)

• Determine frequency of first degree relatives of enrolled participants with APOL1 renal risk variants

  1 year

Study Arms (1)

Adults of African or sub-Saharan ancestry

The study focuses on those who are at risk of having the APOL1 renal risk variants, which homozygous or compound heterozygous variants have been shown to lead to Chronic Kidney Disease in some of the population. Those who are found to have this mutations are of African or sub-Saharan ancestry. This study will include those aged 18-90 of this population.

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

Interventions

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 GENETIC

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.

Adults of African or sub-Saharan ancestry

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

* Black patients seen at Saint Louis University Internal Medicine, Family Medicine, Hypertension and Nephrology Clinics * Family members on enrolled patients, including first-degree relatives and household family members (e.g. spouses). Up to 3 family members per enrolled patient may also be enrolled. * Participation is also open to family members of SLUCare patients who have undergone APOL1 genotyping as part of clinical care (i.e., during evaluation of chronic kidney disease, including for kidney transplantation evaluation, or during living donor candidacy evaluation)

You may qualify if:

• Ages 18-90
• Self-Identified as Black/African American. Race will be self-identified. Patients of African ancestry who identify as multi-racial are also eligible to participate.

You may not qualify if:

• Cognitively impaired/unable to provide consent
• Terminally ill
• Renal replacement therapy (RRT), e.g., (but not limited to) hemodialysis, peritoneal dialysis

Sponsors & Collaborators

• St. Louis University: lead
• Mid-America Transplant: collaborator

Study Sites (1)

SSM Health Saint Louis University Hospital

St Louis, Missouri, 63104, United States

RECRUITING

Related Publications (6)

• Lentine KL, Muiru AN, Lindsay KK, Caliskan Y, Edwards JC, Memon AA, Mosman AK, Miyata KN, Vo TM, Freedman BI, Carriker A, Hsu CY, Philipneri MD. APOL1 Genetic Testing in Patients With Recent African Ancestry and Hypertension: A Pilot Study of Attitudes and Perceptions. Kidney Med. 2022 Sep 29;4(12):100549. doi: 10.1016/j.xkme.2022.100549. eCollection 2022 Dec. No abstract available.

  PMID: 36573119 RESULT

• Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010 Aug 13;329(5993):841-5. doi: 10.1126/science.1193032. Epub 2010 Jul 15.

  PMID: 20647424 RESULT

• Friedman DJ, Kozlitina J, Genovese G, Jog P, Pollak MR. Population-based risk assessment of APOL1 on renal disease. J Am Soc Nephrol. 2011 Nov;22(11):2098-105. doi: 10.1681/ASN.2011050519. Epub 2011 Oct 13.

  PMID: 21997396 RESULT

• Anyaegbu EI, Shaw AS, Hruska KA, Jain S. Clinical phenotype of APOL1 nephropathy in young relatives of patients with end-stage renal disease. Pediatr Nephrol. 2015 Jun;30(6):983-9. doi: 10.1007/s00467-014-3031-0. Epub 2014 Dec 23.

  PMID: 25530085 RESULT

• Freedman BI, Langefeld CD, Turner J, Nunez M, High KP, Spainhour M, Hicks PJ, Bowden DW, Reeves-Daniel AM, Murea M, Rocco MV, Divers J. Association of APOL1 variants with mild kidney disease in the first-degree relatives of African American patients with non-diabetic end-stage renal disease. Kidney Int. 2012 Oct;82(7):805-11. doi: 10.1038/ki.2012.217. Epub 2012 Jun 13.

  PMID: 22695330 RESULT

• Abu Al Rub F, Elsurer Afsar R, Fleetwood VA, Bastani B, Randall H, Nazzal M, Varma C, Afsar B, Jackson H, Yount S, Wooley C, Light J, Davis V, Caliskan Y, Lentine KL. The Diagnostic Yield of Genomic Sequencing-based Genetic Kidney Disease Testing in Kidney Transplant Candidates: Experience at an Urban US Transplant Center. Transplantation. 2025 Jul 1;109(7):1201-1208. doi: 10.1097/TP.0000000000005288. Epub 2025 Jan 14.

  PMID: 39819994 DERIVED

Related Links

• Julie S. Kennan, Nephrology News \& Issues, November 2022, with interview of co-PI Dr. Lentine "Black Americans with hypertension open to genetic testing, concerned about kidney disease"

Biospecimen

Retention: SAMPLES WITH DNA

Participants will have the option to consent or decline to have their remaining blood sample biobanked and stored to be used for future research studies. All samples and data approved for future research will be deidentified to protect patient confidentiality.

MeSH Terms

Conditions

Genetic Predisposition to Disease; Renal Insufficiency, Chronic; Kidney Diseases

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Renal Insufficiency; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease

Central Study Contacts

Krista Lentine, PhD, MD

CONTACT

314-257-3760; krista.lentine@health.slu.edu

Mary Lesko, RN

CONTACT

mary.lesko@health.slu.edu

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 9, 2022
• First Posted: December 19, 2022
• Study Start: January 24, 2019
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2027
• Last Updated: March 20, 2025

Record last verified: 2025-03

Locations

US (1)