Status:
RECRUITING
Evaluation of A Clinical Diagnostic Test for CRDS
Lead Sponsor:
Population Health Research Institute
Collaborating Sponsors:
Canadian Institutes of Health Research (CIHR)
Conditions:
Calcium Release Deficiency Syndrome (CRDS)
Eligibility:
All Genders
Phase:
NA
Brief Summary
Calcium Release Deficiency Syndrome (CRDS) is a novel inherited arrhythmia syndrome secondary to RyR2 loss-of-function that confers a risk of sudden cardiac death. Diagnosis of CRDS presently requires...
Detailed Description
RyR2 loss-of-function variants have recently been established as causative for a new disease termed calcium release deficiency syndrome (CRDS) that confers a risk of malignant ventricular arrhythmias ...
Eligibility Criteria
Inclusion
- Cohort 1: Calcium Release Deficiency Syndrome (CRDS) Cases
- Inclusion criteria:
- • Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing
- Exclusion criteria:
- • Unable to provide informed consent
- Cohort 2: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Cases
- Inclusion criteria:
- Satisfy a clinical phenotype consistent with the Expert Consensus Statement
- Presence of a confirmed or presumed pathogenic gain-of-function RyR2 variant OR homozygous or compound heterozygous for likely pathogenic/pathogenic CASQ2 variants
- Exclusion criteria:
- Unable to provide informed consent
- Use of a QT prolonging medication, aside from flecainide, at the time of the burst pacing maneuvers
- Cohort 3: Survivors of Unexplained Cardiac Arrest (UCA)
- Inclusion criteria:
- Cardiac arrest requiring cardioversion or defibrillation that remains unexplained following an ECG, echocardiogram, coronary assessment, cardiac MRI, and exercise treadmill test
- Undergone genetic testing that includes screening of RyR2\*
- Exclusion criteria:
- Unable to provide informed consent
- Use of a QT prolonging medication at the time of the burst pacing maneuvers
- Among survivors of UCA that possess a rare RyR2 variant in the absence of a CPVT phenotype, in vitro functional testing will be performed in order to confirm it is not loss- or gain-of-function (and will be arranged through the laboratory of Dr. Wayne Chen at the University of Calgary).
- Cohort 4: SVT controls
- Inclusion criteria:
- • Undergoing an invasive electrophysiology study
- Exclusion criteria:
- Ventricular cardiomyopathy
- Ventricular pre-excitation
- Long QT syndrome
- Use of a QT prolonging medication at the time of the EP study
- Use of a Class I or Class III anti-arrhythmic drug at the time of the EP study
- Known obstructive coronary artery disease (existing coronary stenosis \>50%)
- Unable to provide informed consent
Exclusion
Key Trial Info
Start Date :
February 2 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
March 1 2026
Estimated Enrollment :
400 Patients enrolled
Trial Details
Trial ID
NCT06188689
Start Date
February 2 2023
End Date
March 1 2026
Last Update
December 11 2025
Active Locations (18)
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1
University of California
San Francisco, California, United States, 94143
2
Mayo Clinic
Rochester, Minnesota, United States, 55905
3
University of Washington
Seattle, Washington, United States, 98195
4
Antwerp University Hospital
Edegem, Antwerp, Belgium, 2650