CardioSeq: Impact of WGS in Individuals With CVD

Cardiovascular Diseases Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05656183
• Other study ID #: ILMN-007
• Status: Active, not recruiting
• Phase: N/A
• Start date: January 6, 2023
• Est. completion date: June 2025

Study information

• Verified date: April 2024
• Source: Illumina, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 1500
• Est. completion date: June 2025
• Est. primary completion date: December 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Cardiovascular Diseases

Intervention

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.

Locations

Country	Name	City	State
United States	Henry Ford Health System	Detroit	Michigan

Sponsors (2)

Lead Sponsor	Collaborator
Illumina, Inc.	Henry Ford Health System

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	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.	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
Primary	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	Number of patients who receive any monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings.	Quantify the proportion of patients who receive monogenic cardiovascular disease, cardiovascular risk allele and/or cardiovascular pharmacogenomic findings.	42 Months
Secondary	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).	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