RecruitingCalcium Release Deficiency Syndrome (CRDS)
Evaluation of A Clinical Diagnostic Test for CRDS
Eligible age
All ages
Accepts
All genders
Locations
4 states
Healthy volunteers
No
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About this study
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 cellular-based in vitro confirmation that an RyR2 variant causes loss-of-function. We hypothesize that CRDS can be diagnosed clinically through evaluation of the repolarization response to brief tachycardia, mediated by cardiac pacing, and a subsequent pause.
Sponsor: Population Health Research Institute
You may qualify if…
- ✓ Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing
- ✓ 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
- ✓ 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\*
- ✓ Undergoing an invasive electrophysiology study
You may not qualify if…
- ✕ Unable to provide informed consent
- ✕ Cohort 2: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Cases
- ✕ 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)
- ✕ 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).
Where it's recruiting
Source: ClinicalTrials.gov · NCT06188689 · last updated 2026-07-22