CardioSeq: Impact of WGS in Individuals With CVD

April 26, 2024 updated by: Illumina, Inc.

CardioSeq: A Prospective, Single-Center, Open-label Study to Evaluate the Impact of Whole Genome Sequencing (WGS) in Individuals With Cardiovascular Disease

This is a prospective, single-center, open-label study to investigate the diagnostic efficacy of the TruGenome CVD test and its impact on clinical management compared to usual care in individuals with cardiovascular disease. Diagnostic yield and changes of management (CoM) will be assessed both within the WGS group and compared to a contemporaneous, matched (2:1) usual care (UC) group sourced from EHR records.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Detailed Description

The TruGenome Cardiovascular Disease (CVD) test which consists of an in-silico 200 gene cardiovascular disease panel, a further 4 genes with cardiovascular disease risk alleles, 10 pharmacogenomic genes, 35 non-cardiovascular ACMG secondary finding genes and a polygenic risk score (PRS) for coronary artery disease (CAD) will be utilized in this study.

Study Type

Interventional

Enrollment (Estimated)

1500

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Michigan
      • Detroit, Michigan, United States, 48202
        • Henry Ford Health System

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  1. Individuals ≥18 years of age
  2. Stable ambulatory patients with a cardiology visit within the past year or scheduled within the next 90 days.

  3. At least one of the following clinical diagnoses:

    A. Any aortopathy, B. Dyslipidemia, C. Coronary or peripheral arterial disease, D. Heart Failure or cardiomyopathy, E. Any arrythmia

  4. Must be able to read, understand, and sign an informed consent

Exclusion Criteria:

  1. Individuals with a previously confirmed molecular diagnosis of a known genetic disease with an associated cardiovascular phenotype inclusive of monogenic cardiovascular diseases, chromosomal aneuploidies, and microdeletion disorders.
  2. Bone marrow transplant recipients
  3. Individuals with severe cognitive dysfunction or diminished capacity who are unable to provide informed consent
  4. Patients undergoing active chemotherapy treatment for cancer
  5. Patients with end-stage renal disease
  6. Patients with poor medical prognosis with a life expectancy <1 year
  7. Principal Investigator decides for any reason the study is not in the best interest of the patient

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Screening
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Single Arm
To investigate the diagnostic efficacy of WGS and its impact on clinical management compared to usual care in individuals with cardiovascular disease. Diagnostic yield and changes of management (CoM) will be assessed both within the WGS group and compared to a contemporaneous, matched (2:1) usual care (UC) group sourced from EHR records.
Diagnostic test: TruGenome Cardiovascular Disease test
The TruGenome Cardiovascular Disease (CVD) test which consists of an in-silico 200 gene cardiovascular disease panel, a further 4 genes with cardiovascular disease risk alleles, 10 pharmacogenomic genes, 35 non-cardiovascular ACMG secondary finding genes and a polygenic risk score (PRS) for coronary artery disease (CAD) will be utilized in this study.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of patients who receive a new monogenic cardiovascular disease finding
Time Frame: 42 Months
Quantify the proportion of patients who receive a new monogenic cardiovascular disease finding from the TruGenome CVD test
42 Months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of patients who receive any monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings.
Time Frame: 42 Months
Quantify the proportion of patients who receive monogenic cardiovascular disease, cardiovascular risk allele and/or cardiovascular pharmacogenomic findings.
42 Months
Number of patients who receive monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings leading to a CoM within 3 months (90 days) and 6 months (180 days) after Return of Results (RoR).
Time Frame: Within 3 months (90 days) and 6 months (180 days) after Return of Results
Quantify the proportion of patients who receive monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings leading to a CoM within 3 months (90 days) and 6 months (180 days) after Return of Results (RoR).
Within 3 months (90 days) and 6 months (180 days) after Return of Results

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of patients who received a CoM (as defined above) compared to a contemporaneous matched (2:1) UC group assessed at patient index date (Return of Results), 3 months (90 days), and 6 months (180 days) thereafter.
Time Frame: Within 3 months (90 days) and 6 months (180 days) after Return of Results
Quantify the proportion of patients who received a CoM as defined above compared to a contemporaneous matched (2:1) UC group assessed at patient index date (Return of Results), 3 months (90 days), and 6 months (180 days) thereafter.
Within 3 months (90 days) and 6 months (180 days) after Return of Results

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Illumina, Inc.

Collaborators

Henry Ford Health System

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 6, 2023

Primary Completion (Estimated)

December 1, 2024

Study Completion (Estimated)

June 1, 2025

Study Registration Dates

First Submitted

December 8, 2022

First Submitted That Met QC Criteria

December 15, 2022

First Posted (Actual)

December 19, 2022

Study Record Updates

Last Update Posted (Actual)

April 30, 2024

Last Update Submitted That Met QC Criteria

April 26, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ILMN-007

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

Yes

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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