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Clinical Trials in France / NCT06508164
Recruiting Observational

International CRDS Registry

NCT06508164 · tracked via the Priya Life Science France tracker
Sponsor
Population Health Research Institute
Phase
Observational
Started
2024-11-21
Last updated
2026-09-28

Condition(s) studied

Calcium Release Deficiency Syndrome

Study summary

Calcium Release Deficiency Syndrome (CRDS) is a newly discovered genetic arrhythmia syndrome that confers a risk of life-threatening arrhythmias secondary to RYR2 loss-of-function. The International CRDS registry has been designed to facilitate large-scale evaluation of CRDS, including its phenotypic spectrum, approaches to risk stratification, and optimal treatment strategies.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
CRDS Cohort Inclusion Criterion: \- Presence of a rare\* RYR2 variant that is characterized to be loss-of-function based on in vitro testing# RYR2 Truncating and Large CNV Cohort Inclusion Criterion: \- Presence of a rare\* RYR2 truncating variant and/or large copy number variant involving the RYR2 gene. Carriers of a Non-Functional RYR2 variant Inclusion Criterion: \- Presence of a rare\* RYR2 variant that is characterized to be neither loss- nor gain-of-function based on in vitro testing# \*rare defined as gnomAD prevalence \< 0.1% #RYR2 in vitro functional testing will be performed in the laboratory of Dr. Wayne Chen (University of Calgary)

Primary outcome measure(s)

  • Malignant Ventricular Arrhythmia — 5 years
    Composite of malignant syncope, ICD shock, cardiac arrest, and sudden cardiac death

Trial sites (22)

FacilityCityRegionStatus
University of California San Francisco California Recruiting
Mayo Clinic Rochester Minnesota Recruiting
Duke University Durham North Carolina Recruiting
Inova Health Care Services Fairfax Virginia Recruiting
Garvan Institute of Medical Research Darlinghurst New South Wales Recruiting
Antwerp University Hospital Edegem Antwerp Recruiting
Universitair Ziekenhuis Brussel Brussels Belgium Recruiting
University of Calgary Calgary Alberta Recruiting
Alberta Health Services Edmonton Alberta Recruiting
Children's & Women's Health Centre of British Columbia Vancouver British Columbia Recruiting
The University of British Columbia Vancouver British Columbia Recruiting
Hamilton General Hospital Hamilton Ontario Recruiting
London Health Sciences Centre - University Hospital London Ontario Recruiting
Ottawa Heart Institute Ottawa Ontario Recruiting
Montréal Heart Institute Montreal Quebec Recruiting
Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval Québec Quebec Recruiting
Rigshospitalet Copenhagen The Capital Region of Denmark Recruiting
Aarhus University Hospital Aarhus Denmark Recruiting
CHU de Bordeaux Bordeaux New Aquitaine Recruiting
Shaare Zedek Medical Center Jerusalem Israel Recruiting
Oxford University Hospitals Oxford Oxfordshire Recruiting
City St George's, University of London London United Kingdom Recruiting

More Population Health Research Institute trials in France

Evaluation of A Clinical Diagnostic Test for CRDS Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06508164 on ClinicalTrials.gov ↗ ← All trials in France