Genetic Testing to Understand and Address Renal Disease Disparities

Not Applicable

Completed

• Conditions: Genomics; Chronic Kidney Disease; Hypertension
• Interventions: Other: Immediate Genetic Testing

• Registration Number: NCT02234063
• Lead Sponsor: Icahn School of Medicine at Mount Sinai

Brief Summary

In this genomic medicine implementation pilot project, the investigators aim to conduct a randomized trial in a network of community health centers and primary care facilities to study processes, effects and challenges of incorporating information for apolipoprotein L1 (APOL1)-attributable genetic risk for end stage kidney disease in patients of African ancestry with hypertension .

Detailed Description

CKD is most commonly associated with diabetes (40%) and hypertension (28%), and affects 26 million American adults. African ancestry populations with hypertension (HTN) have 2- to 3-fold higher risk of developing CKD, and a 5-fold increased risk to progress to end stage renal disease (ESRD) when compared with whites. HTN is a risk factor for progression of CKD and for increased cardiovascular risk with CKD. Thus targeting blood pressure control as a modifiable risk factor may both reduce CVD in people with CKD and reduce progression of CKD to end stage disease. Recent discoveries demonstrate that testable alleles of the APOL1 locus on chromosome 22 have a major effect on and explain almost all of the excess risk for hypertension-associated CKD and its progression to ESRD in African ancestry populations.

We will use community-engaged approaches to enroll patients of African Ancestry with HTN from a network of community health centers and primary care facilities in Harlem and the Bronx and randomize them on a 7 to 1 ratio to receive APOL1 genetic testing and EMR-enabled provider clinical decision support incorporating APOL1 genomic risk information.

Study Timeline

• Study First Submitted: 2014-09-04
• Study First Submitted QC: 2014-09-08
• Study First Posted: 2014-09-09
• Study Start: 2014-11
• Primary Completion: 2018-01-12
• Study Completion: 2018-01-12
• Results First Submitted: 2020-07-31
• Status Verified: 2020-09
• Results First Submitted QC: 2020-09-10
• Last Update Submitted: 2020-09-10
• Results First Posted: 2020-10-05
• Last Update Posted: 2020-10-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2052

Inclusion Criteria

• Ages18-65
• Self-identifies as Black/African American
• History of hypertension
• Patient at a participating site

Exclusion Criteria

• History of Chronic Kidney Disease
• History of Diabetes
• Pregnant
• Cognitively impaired/unable to provide consent
• Terminally ill
• Planning to leave area of study permanently during the one year study period

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Immediate Genetic Testing	Immediate Genetic Testing	Participants randomized to intervention will receive the APOL1 genetic test upon study enrollment.

Primary Outcome Measures

Name	Time	Method
Number of Participants With Urine Protein Excretion	Baseline and 12 months	Number of participants with urine protein excretion in urine tests to assess kidney function at 12 months as compared to baseline
Change in Systolic Blood Pressure	Baseline and 3 months	Change in systolic blood pressure at 3 months as compared to baseline

Secondary Outcome Measures

Name	Time	Method
Number of Participants With Change in Medication Adherence	3 months	Participant surveys (self-report) regarding medication adherence behaviors 3 months after randomization
Number of Patients With Changes in Psychosocial Behaviors	3 months	Number of patients with changes in psychosocial behaviors 3 months after randomization
Number of Participants With Attitude Towards Genetic Testing	3 months	Patient attitude towards genetic testing 3 months after randomization

Trial Locations

Locations (2)

Icahn School of Medicine at Mount Sinai; 🇺🇸 New York, New York, United States

Institute for Family Health; 🇺🇸 New York, New York, United States