Evaluating a Clinical Test for Calcium Release Deficiency Syndrome (CRDS)

This study is evaluating a new way to diagnose Calcium Release Deficiency Syndrome (CRDS), a heart condition that can lead to sudden cardiac death. Currently, diagnosing CRDS requires complex lab tests. Researchers believe that CRDS can be identified by observing how your heart's electrical activity (repolarization response) changes after brief, controlled pacing (a procedure that uses electrical pulses to make your heart beat at a certain rate). The study will involve using pacing to measure changes in your heart's T-wave amplitude and QT interval. We are looking for people with confirmed CRDS and also people with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) to participate. The goal is to find a simpler, more accessible way to diagnose CRDS.

Study design
This interventional study plans to enroll 400 participants across two groups: those with CRDS and those with CPVT. The study is not blinded or randomized.
What's involved
Participants will undergo pacing procedures, which involve brief bursts of electrical pulses to the heart. The study measures changes in heart activity during these pacing maneuvers.
Compensation
Not stated in the trial record.
Follow-up
Measurements are taken at the time of the pacing maneuver, so there is no extended follow-up period mentioned.

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NCT06188689

Evaluation of A Clinical Diagnostic Test for CRDS

Recruiting
NAAll AgesInterventionalDiagnostic
Population Health Research Institute
~400 participants
Updated 2026-07-22 on ClinicalTrials.gov
What's tested:Pacing

At a glance

Recruiting sites
20 of 20 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
ΔT-wave amplitude value
Measured over At time of pacing maneuver
+1 more outcome measured
Calcium Release Deficiency Syndrome (CRDS)
20 sites across 14 states
Ontario4
Alberta2
British Columbia2
Quebec2
California1
Massachusetts1
Minnesota1
Washington1
  • Ziv Dadon, MD · STUDY_DIRECTOR · Shaare Zedek Medical Center
  • Jason D Roberts, MD MAS · PRINCIPAL_INVESTIGATOR · McMaster University
  • Wayne Chen, PhD · PRINCIPAL_INVESTIGATOR · University of Calgary

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Eligibility criteria

Inclusion

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\*

Exclusion

Unable to provide informed consent
Use of a QT prolonging medication, aside from flecainide, at the time of the burst pacing maneuvers
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).
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
  • ΔT-wave amplitude valueAt time of pacing maneuver

    T-wave amplitude on first post-pause sinus beat subtracted by the T-wave amplitude on the last sinus beat prior to pacing

  • ΔQT valueAt time of pacing maneuver

    Absolute QT value on first post-pause sinus beat subtracted by the absolute QT value on the last sinus beat prior to pacing