Genetic Information for High Blood Pressure

Overseen By Nehal Vekariya, MS

Age: 18 - 65

Sex: Any

Trial Phase: Academic

Sponsor: University of Alabama at Birmingham

Must be taking: Antihypertensives

Disqualifiers: Cardiovascular disease, BMI extremes, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 5

Duration: 12 months

300 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify if you need to stop taking your current medications. However, if you are using more than two types of blood pressure medications, you may not be eligible to participate.

What data supports the effectiveness of the treatment SBP PRS for high blood pressure?

The research suggests that genetic factors play a significant role in blood pressure control, with some studies identifying specific genes that influence blood pressure levels. This indicates that treatments targeting genetic components, like SBP PRS, could potentially be effective in managing high blood pressure. ^{1 2 3 4 5}

Is the genetic treatment for high blood pressure safe for humans?

The Systolic Blood Pressure Intervention Trial (SPRINT) found that intensive blood pressure treatment reduced heart-related problems but increased the risk of kidney issues. This suggests that while the treatment can be beneficial, it may also have some safety concerns, particularly for the kidneys. ^{4 6 7 8 9}

How does the treatment SBP PRS differ from other high blood pressure treatments?

SBP PRS is unique because it uses genetic information to tailor treatment for high blood pressure, potentially offering a more personalized approach compared to standard treatments that do not consider individual genetic differences. ^{3 4 10 11 12}

What is the purpose of this trial?

In a multi-ethnic population, a genome-wide polygenic risk score (PRS) for systolic blood pressure (SBP), incorporating over one million common genetic variants, predicts blood pressure (BP) traits and the risk of adverse cardiovascular events beyond traditional risk factors. Delivering SBP PRS information to young and middle-aged adults with hypertension (HTN) and poor cardiovascular health (CVH) may enhance their motivation to adopt healthier lifestyles, improve blood pressure control, and ultimately reduce the risk of future cardiovascular disease (CVD). This randomized controlled trial will assess the impact of SBP PRS disclosure and theory-based genomic counseling on systolic blood pressure and health behaviors. A total of 300 adults aged 18-55 years will be enrolled and randomized to receive either routine clinical care or SBP PRS results with structured genomic counseling based on the Health Belief Model (HBM). Participants will be followed for 12 months. The primary outcome is change in 24-hour mean SBP from baseline to one year. Secondary outcomes include changes in physical activity, diet, medication adherence, smoking, lipid and glucose levels, and body composition. The study will also evaluate how behavior change is influenced by health beliefs, including perceived risk and self-efficacy. This study aims to advance the use of genomic tools in hypertension management and cardiovascular disease prevention.

Research Team

Pankaj Arora, MD, FAHA

Principal Investigator

University of Alabama at Birmingham

Eligibility Criteria

This trial is for young and middle-aged adults aged 18-55 with high blood pressure and poor cardiovascular health. Participants should be interested in how their genetic risk affects their health. People who don't meet the age requirement, have good cardiovascular health, or are not at risk of hypertension cannot join.

Inclusion Criteria

Able to provide informed consent

Poor cardiovascular health, defined as Life's Essential 8 score <50

Willing and able to undergo 24-hour ambulatory blood pressure monitoring (ABPM) to confirm hypertension

Exclusion Criteria

Moderate or severe anxiety (Beck Anxiety Inventory [BAI] score >16)

Body mass index (BMI) <18.5 kg/m² or >45 kg/m²

Baseline office SBP >160 mm Hg or DBP >100 mm Hg

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-3 weeks

Baseline Assessment

Comprehensive baseline health assessment including genotyping, computation of SBP PRS, and measurement of key health constructs

1-2 weeks

1 visit (in-person)

Treatment

Participants receive either routine clinical care or SBP PRS results with structured genomic counseling

12 months

4 visits (in-person, quarterly)

Follow-up

Participants are monitored for changes in systolic blood pressure and health behaviors

4 weeks

Treatment Details

Interventions

• SBP PRS

Trial Overview The study tests if knowing your genetic risk score for high blood pressure can help you improve your lifestyle and lower your blood pressure. Half the participants will get regular care; the other half will also receive their polygenic risk score and counseling based on it.

Participant Groups

Group I: SBP PRS Dissemination Experimental Treatment 1 Intervention

Participants randomized to this arm will receive their personalized SBP polygenic risk score (PRS), along with structured genomic counseling sessions guided by the Health Belief Model and routine clinical care. Counseling will be delivered by trained genetic counselors at baseline and during 3-monthly in-person follow-up visits. The counseling is designed to increase perceived susceptibility, reduce perceived barriers, and improve self-efficacy for health behavior change.

Group II: Routine Clinical Care Active Control 1 Intervention

Participants randomized to this arm will receive standard clinical care for hypertension, including educational materials on blood pressure control, lifestyle modification, and cardiovascular health. These materials will be adapted from the American Heart Association Life's Essential 8 and the ACC preventive cardiology toolkit. Participants will not receive SBP PRS results or genomic counseling during the study. At the end-of-study visit (12 months), participants in this group will be offered their SBP PRS results and optional genomic counseling.

Who Is Running the Clinical Trial?

University of Alabama at Birmingham

Lead Sponsor

Trials

1,677

Recruited

2,458,000+

Findings from Research

A new risk estimation tool was developed using data from 8760 participants in the Systolic Blood Pressure Intervention Trial (SPRINT) to compare the risks of cardiovascular events and acute kidney injury (AKI) between intensive and standard blood pressure treatments.

The tool, validated with high accuracy (areas under the curve of 0.70 for cardiovascular outcomes and 0.77 for AKI), helps identify patients who may benefit most from intensive blood pressure control while considering the potential risks of adverse events.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Easy-to-use tool for evaluating the elevated acute kidney injury risk against reduced cardiovascular disease risk during intensive blood pressure control. Venäläinen, MS., Klén, R., Mahmoudian, M., et al.[2021]

In a study of 6427 older patients (average age 80) with hypertension, the best cardiovascular outcomes were observed in those with an average systolic blood pressure (SBP) of 120-129 mmHg, indicating a J-shaped relationship between SBP and adverse events.

Maintaining an SBP of less than 130 mmHg was linked to improved health outcomes without significant safety issues, supporting the recommendation to target this level in older patients if they can tolerate it.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cardiovascular outcomes according to on-treatment systolic blood pressure in older hypertensive patients: a multicenter cohort using a common data model. Kim, JH., Joo, HJ., Chung, SH., et al.[2023]

References

1. United States pubmed.ncbi.nlm.nih.gov

The application of molecular genetics to the study of familial arterial hypertension. [2019]

2. England pubmed.ncbi.nlm.nih.gov

Transgenics and essential hypertension. [2005]

3. United States pubmed.ncbi.nlm.nih.gov

Molecular genetics of human blood pressure variation. [2019]

4. Netherlands pubmed.ncbi.nlm.nih.gov

Association between genetic risk of high SBP and hypertension control: the CoLaus|PsyColaus study. [2023]

5. Switzerland pubmed.ncbi.nlm.nih.gov

Evidence of a rare gene for low systolic blood pressure in the Framingham Heart Study. [2018]

6. Netherlands pubmed.ncbi.nlm.nih.gov

Easy-to-use tool for evaluating the elevated acute kidney injury risk against reduced cardiovascular disease risk during intensive blood pressure control. [2021]

7. United States pubmed.ncbi.nlm.nih.gov

Assessing Cardiovascular Risk to Guide Hypertension Diagnosis and Treatment. [2018]

8. Netherlands pubmed.ncbi.nlm.nih.gov

Cardiovascular outcomes according to on-treatment systolic blood pressure in older hypertensive patients: a multicenter cohort using a common data model. [2023]

9. England pubmed.ncbi.nlm.nih.gov

Adult derived genetic blood pressure scores and blood pressure measured in different body postures in young children. [2018]

10. England pubmed.ncbi.nlm.nih.gov

An appraisal of the genetic approaches to high blood pressure. [2013]

11. Russia (Federation) pubmed.ncbi.nlm.nih.gov

[Genetic research in hypertension]. [2013]

12. United States pubmed.ncbi.nlm.nih.gov

Congenic substitution mapping excludes Sa as a candidate gene locus for a blood pressure quantitative trait locus on rat chromosome 1. [2019]