Actively Recruiting
Evaluation of A Clinical Diagnostic Test for CRDS
Led by Population Health Research Institute · Updated on 2026-05-05
400
Participants Needed
18
Research Sites
264 weeks
Total Duration
On this page
Sponsors
P
Population Health Research Institute
Lead Sponsor
C
Canadian Institutes of Health Research (CIHR)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Evaluation of A Clinical Diagnostic Test for CRDS
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Presence of an RyR2 variant confirmed to be loss-of-function on in vitro testing
- Clinical phenotype consistent with Expert Consensus Statement for CPVT
- Presence of a confirmed or presumed pathogenic gain-of-function RyR2 variant or homozygous/compound heterozygous for likely pathogenic/pathogenic CASQ2 variants
- Cardiac arrest requiring cardioversion or defibrillation unexplained by ECG, echocardiogram, coronary assessment, cardiac MRI, and exercise treadmill test
- Undergoing genetic testing that includes screening of RyR2
- Undergoing an invasive electrophysiology study
You will not qualify if you...
- Unable to provide informed consent
- Use of QT prolonging medication (except flecainide) at the time of burst pacing maneuvers
- Ventricular cardiomyopathy
- Ventricular pre-excitation
- Long QT syndrome
- Use of Class I or Class III anti-arrhythmic drugs at the time of the EP study
- Known obstructive coronary artery disease (coronary stenosis >50%)
AI-Screening
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Trial Site Locations
Total: 18 locations
1
University of California
San Francisco, California, United States, 94143
Actively Recruiting
2
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
3
University of Washington
Seattle, Washington, United States, 98195
Actively Recruiting
4
Antwerp University Hospital
Edegem, Antwerp, Belgium, 2650
Actively Recruiting
5
Universitair Ziekenhuis Brussel
Brussels, Belgium, 1090
Actively Recruiting
6
University of Calgary
Calgary, Alberta, Canada, T2N 1N4
Actively Recruiting
7
Children's & Women's Health Centre of British Columbia
Vancouver, British Columbia, Canada, V6H 3N1
Actively Recruiting
8
The University of British Columbia
Vancouver, British Columbia, Canada, V6T 1Z3
Actively Recruiting
9
Hamilton General Hospital
Hamilton, Ontario, Canada, L8L 2X2
Actively Recruiting
10
London Health Sciences Centre - University Hospital
London, Ontario, Canada, N6A 5A5
Actively Recruiting
11
Ottawa Heart Institute
Ottawa, Ontario, Canada, K1Y 4W7
Actively Recruiting
12
Toronto General Hospital
Toronto, Ontario, Canada, M5G 2C4
Actively Recruiting
13
Montréal Heart Institute
Montreal, Quebec, Canada, H1T 1C8
Actively Recruiting
14
Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval
Québec, Quebec, Canada, G1V 4G5
Actively Recruiting
15
Aarhus University Hospital
Aarhus, Denmark, DK-8200 N
Actively Recruiting
16
CHU de Bordeaux
Bordeaux, New Aquitaine, France, 33404
Actively Recruiting
17
Shaare Zedek Medical Center
Jerusalem, Israel, 9103102
Actively Recruiting
18
Oxford University Hospitals
Oxford, Oxfordshire, United Kingdom, OX3 9DU
Actively Recruiting
Research Team
J
Jason Roberts, MD MAS
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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