International CRDS Registry

NCT06508164 · tracked via the Priya Life Science Australia 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

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)

Facility	City	Region	Status
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

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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 Australia