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Evaluation of A Clinical Diagnostic Test for CRDS

RecruitingNAAges any - anyAllPopulation Health Research Institute
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In plain words

What the trial is, and whether it could suit you

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.

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๐Ÿ“‹ Eligibility rules (as published)
Cohort 1: Calcium Release Deficiency Syndrome (CRDS) Cases Inclusion criteria: โ€ข Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing Exclusion criteria: โ€ข 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: โ€ข 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
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What it tests

  • Pacing
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Where

20 sites
University of California
San Francisco, United States
Boston Children's Hospital
Boston, United States
Mayo Clinic
Rochester, United States
University of Washington
Seattle, United States
Antwerp University Hospital
Edegem, Belgium
Universitair Ziekenhuis Brussel
Brussels, Belgium
University of Calgary
Calgary, Canada
Alberta Health Services
Edmonton, Canada

โ€ฆand 12 more on ClinicalTrials.gov.

๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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