Genetic PredispositionNCT05656261
APOL1 Genetic Testing in African Americans
An observational study of Genetic Predisposition and Chronic Kidney Diseases, run by St. Louis University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Predisposition, Chronic Kidney Diseases, Nephropathy
- What is being tested?
- 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
- How many people
- 600 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Jan 2019to 30 Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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)
Who may be able to join
- 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.
Who cannot join
- Cognitively impaired/unable to provide consent
- Terminally ill
- Renal replacement therapy (RRT), e.g., (but not limited to) hemodialysis, peritoneal dialysis
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Mary Lesko, RN contact
United States1 site, 1 recruiting
- Recruiting
SSM Health Saint Louis University Hospital
St Louis, Missouri, 63104
Krista Lentine, PhD, MD, 314-257-3760, krista.lentine@health.slu.edu
Yasar Caliskan, MD, yasar.caliskan@health.slu.edu
About this study
Official title: APOL1 Genetic Testing in African Americans: Exploring Attitudes About Genetic Risk to Improve Comprehensive Kidney Risk Assessment for Patients and Families
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.
Read the detailed description
Recent recognition of coding variants in the Apolipoprotein L1 (APOL1) gene as a strong risk factor for advanced chronic kidney disease (CKD) and end-stage kidney disease (ESKD) in African Americans (AAs) has marked one of the most impactful discoveries in kidney precision medicine. It is well-established that AAs have an increased risk of kidney failure, but it now appears that at least a portion of this risk disparity is genetically mediated by APOL1 renal risk variants (RRVs). Approximately 13% of Black Americans have APOL1 high-risk genotypes (2 copies of G1, G2, or compound heterozygotes [2 RRVs]) and are at higher risk for ESKD. Importantly, APOL1 high-risk genotypes are not deterministic for kidney disease. Rather, additional genetic and/or environmental "second hits" are likely required for disease initiation and progression. These "second hits" may include environmental factors and social determinants of health, as well as biologic factors.
Supported by the Mid-America Transplant Foundation, this study seeks to assess the frequency of APOL1 RRVs in local African American patients with hypertension and to assess their attitudes about APOL1 genetic testing and the potential impact of knowing one's APOL1 genotype on hypertension and renal risk factor management through self-administered surveys.
This study is open to Black patients seen in SLUCare Nephrology, Hypertension, Internal/Family Medicine clinics, or the University hospital, as well as to first-degree relatives and household family members (e.g. spouses) of enrolled participants or previously APOL1 genotyped patients of SSM Saint Louis University Hospital and SLUCare clinic. Family-based recruitment may help discriminate impacts of genetic risk from other potential shared biologic and non-biologic risk factors, and will also broaden the reach of the project in our community.
- Conditions
- Genetic Predisposition, Chronic Kidney Diseases, Nephropathy, APOL1 Associated Kidney Disease, Disparities
- Being tested
- 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
- Keywords
- APOL1 Renal Risk Variants
- Medical subject headings
- Genetic Predisposition to Disease, Renal Insufficiency, Chronic, Kidney Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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 surveysGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1 year
Secondary outcomes (1)
Determine frequency of first degree relatives of enrolled participants with APOL1 renal risk variants
To assess the association and interaction between potential "second hits" such as environmental factors and comorbidities with APOL1 genotype on kidney function among Black patients and their families.
- To assess attitudes of patients and family members about APOL1 genetic testing and the potential impact of knowing one's APOL1 genotype on hypertension and renal risk factor management through self-administered surveys.
- To assess the interest of patients and family members in genetic counseling related to APOL1 genetic testing and kidney risk.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Dec 2022
- Study start24 Jan 2019
- Primary completion30 Jun 2026 (estimated)
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Genetic PredispositionStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Ecologic or community
- Time perspective
- Prospective
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- St. Louis University
- Sponsor type
- University, hospital or other
- Collaborators
- Mid-America Transplant
- Responsible party
- Principal investigator, Krista Lentine MD, PhD, St. Louis University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05656261
- Sponsor's protocol ID
- 29188
- Status last verified
- Mar 2025
- First submitted
- 9 Dec 2022
- Last updated
- 20 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 36573119Genovese 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.
PubMed 20647424Friedman 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.
PubMed 21997396Anyaegbu 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.
PubMed 25530085Freedman 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.
PubMed 22695330Abu 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.
PubMed 39819994
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- APOL1 Genetic Testing in African Americans: Exploring Attitudes About Genetic Risk to Improve Comprehensive Kidney Risk Assessment for Patients and Families
- ClinicalTrials.gov ID
- NCT05656261
- Acronym / sponsor ID
- 29188
- Conditions
- Genetic Predisposition, Chronic Kidney Diseases, Nephropathy, APOL1 Associated Kidney Disease, Disparities
- Keywords
- APOL1 Renal Risk Variants
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- St. Louis UniversityUniversity, hospital or other
- Collaborators
- Mid-America Transplant
- Study start
- 24 Jan 2019 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 19 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Recent recognition of coding variants in the Apolipoprotein L1 (APOL1) gene as a strong risk factor for advanced chronic kidney disease (CKD) and end-stage kidney disease (ESKD) in African Americans (AAs) has marked one of the most impactful discoveries in kidney precision medicine. It is well-established that AAs have an increased risk of kidney failure, but it now appears that at least a portion of this risk disparity is genetically mediated by APOL1 renal risk variants (RRVs). Approximately 13% of Black Americans have APOL1 high-risk genotypes (2 copies of G1, G2, or compound heterozygotes [2 RRVs]) and are at higher risk for ESKD. Importantly, APOL1 high-risk genotypes are not deterministic for kidney disease. Rather, additional genetic and/or environmental "second hits" are likely required for disease initiation and progression. These "second hits" may include environmental factors and social determinants of health, as well as biologic factors.
Supported by the Mid-America Transplant Foundation, this study seeks to assess the frequency of APOL1 RRVs in local African American patients with hypertension and to assess their attitudes about APOL1 genetic testing and the potential impact of knowing one's APOL1 genotype on hypertension and renal risk factor management through self-administered surveys.
This study is open to Black patients seen in SLUCare Nephrology, Hypertension, Internal/Family Medicine clinics, or the University hospital, as well as to first-degree relatives and household family members (e.g. spouses) of enrolled participants or previously APOL1 genotyped patients of SSM Saint Louis University Hospital and SLUCare clinic. Family-based recruitment may help discriminate impacts of genetic risk from other potential shared biologic and non-biologic risk factors, and will also broaden the reach of the project in our community.
Study design
- Observational model
- Ecologic or community
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adults of African or sub-Saharan ancestry | – | 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 surveysThe 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. |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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)
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (3 listed)
- Cognitively impaired/unable to provide consent
- Terminally ill
- Renal replacement therapy (RRT), e.g., (but not limited to) hemodialysis, peritoneal dialysis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 surveysOn 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. | Genetic | Adults of African or sub-Saharan ancestry |
Primary outcome
Determine frequency of APOL1 renal risk variants in black population
Time frame: 1 year
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 secondary outcome
Determine frequency of first degree relatives of enrolled participants with APOL1 renal risk variants
Time frame: 1 year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2025.
- Results publication: PubMed 36573119Lentine 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.
- Results publication: PubMed 20647424Genovese 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.
- Results publication: PubMed 21997396Friedman 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.
- Results publication: PubMed 25530085Anyaegbu 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.
- Results publication: PubMed 22695330Freedman 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.
- Derived from this study: PubMed 39819994Abu 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.
- 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"Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mary Lesko, RN contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Predisposition and Chronic Kidney Diseases, run by St. Louis University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Krista Lentine, PhD, MD (314-257-3760, krista.lentine@health.slu.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determine frequency of APOL1 renal risk variants in black population (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05656261, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Mar 2025.