Evaluation of A Clinical Diagnostic Test for CRDS (NCT06188689) | Clinical Trial Compass
RecruitingNot Applicable
Evaluation of A Clinical Diagnostic Test for CRDS
United States, Belgium400 participantsStarted 2023-02-02
Plain-language 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 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.
Who can participate
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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 contro…