Ignite Creation Date:
2024-05-06 @ 6:25 PM
Last Modification Date:
2024-10-26 @ 2:47 PM
Study NCT ID:
NCT05656261
Status:
RECRUITING
Last Update Posted:
2024-03-18
First Post:
2022-12-09
Brief Title:
APOL1 Genetic Testing in African Americans
Sponsor:
St Louis University
Organization:
St Louis University
Study Overview
Official Title:
APOL1 Genetic Testing in African Americans Exploring Attitudes About Genetic Risk to Improve Comprehensive Kidney Risk Assessment for Patients and Families
Status:
RECRUITING
Status Verified Date:
2024-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 andor 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 ones 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 InternalFamily Medicine clinics or the University hospital as well as to first-degree relatives and household family members eg 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
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 ones 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 InternalFamily Medicine clinics or the University hospital as well as to first-degree relatives and household family members eg 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None