Evaluation of A Clinical Diagnostic Test for CRDS

Recruiting now · Not applicable

Conditions studied: Calcium Release Deficiency Syndrome (CRDS)

In brief

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.

Key facts

Study ID

NCT06188689

Run by

Population Health Research Institute

People needed

400

Starts

2023-02-02

Expected to finish

2028-03-01

Last updated by the study team

2026-07-22

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing

You may not qualify if…

• 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

Where it is running

• University of California — San Francisco, California, United States (enrolling)
• Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)
• Mayo Clinic — Rochester, Minnesota, United States (enrolling)
• University of Washington — Seattle, Washington, United States (enrolling)
• Antwerp University Hospital — Edegem, Antwerp, Belgium (enrolling)
• Universitair Ziekenhuis Brussel — Brussels, Belgium (enrolling)
• University of Calgary — Calgary, Alberta, Canada (enrolling)
• Alberta Health Services — Edmonton, Alberta, Canada (enrolling)
• Children's & Women's Health Centre of British Columbia — Vancouver, British Columbia, Canada (enrolling)
• The University of British Columbia — Vancouver, British Columbia, Canada (enrolling)
• Hamilton General Hospital — Hamilton, Ontario, Canada (enrolling)
• London Health Sciences Centre - University Hospital — London, Ontario, Canada (enrolling)
• Ottawa Heart Institute — Ottawa, Ontario, Canada (enrolling)
• Toronto General Hospital — Toronto, Ontario, Canada (enrolling)
• Montréal Heart Institute — Montreal, Quebec, Canada (enrolling)
• Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval — Québec, Quebec, Canada (enrolling)
• Aarhus University Hospital — Aarhus, Denmark (enrolling)
• CHU de Bordeaux — Bordeaux, New Aquitaine, France (enrolling)
• Shaare Zedek Medical Center — Jerusalem, Israel (enrolling)
• Oxford University Hospitals — Oxford, Oxfordshire, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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