CardioSeq: Impact of WGS in Individuals With CVD

NCT05656183 | Active Not Recruiting FDA Device

• 1 other identifier: ILMN-007
• Study Type: interventional
• Target: 1,500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Cardiovascular Diseases

Outcome Measures

Primary Outcomes (1)

• Number of patients who receive a new monogenic cardiovascular disease finding

  Quantify the proportion of patients who receive a new monogenic cardiovascular disease finding from the TruGenome CVD test

  42 Months

Secondary Outcomes (2)

• Number of patients who receive any monogenic cardiovascular disease, cardiovascular risk allele, 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).

  Within 3 months (90 days) and 6 months (180 days) after Return of Results

Other Outcomes (1)

• 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.

  Within 3 months (90 days) and 6 months (180 days) after Return of Results

Study Arms (1)

Single Arm

EXPERIMENTAL

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

Interventions

TruGenome Cardiovascular Disease test DIAGNOSTIC_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.

Single Arm

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Individuals ≥18 years of age
• Stable ambulatory patients with a cardiology visit within the past year or scheduled within the next 90 days.
• 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
• Must be able to read, understand, and sign an informed consent

You may not qualify if:

• 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.
• Bone marrow transplant recipients
• Individuals with severe cognitive dysfunction or diminished capacity who are unable to provide informed consent
• Patients undergoing active chemotherapy treatment for cancer
• Patients with end-stage renal disease
• Patients with poor medical prognosis with a life expectancy \<1 year
• Principal Investigator decides for any reason the study is not in the best interest of the patient

Sponsors & Collaborators

• Illumina, Inc.: lead
• Henry Ford Health System: collaborator

Study Sites (1)

Henry Ford Health System

Detroit, Michigan, 48202, United States

Location

MeSH Terms

Conditions

Cardiovascular Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 8, 2022
• First Posted: December 19, 2022
• Study Start: January 6, 2023
• Primary Completion: December 1, 2024
• Study Completion: June 1, 2025
• Last Updated: April 30, 2024

Record last verified: 2024-04

Locations

US (1)