International CRDS Registry

Recruiting

• Conditions: Calcium Release Deficiency Syndrome

• Registration Number: NCT06508164
• Lead Sponsor: Population Health Research Institute

Brief 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.

Detailed Description

Calcium Release Deficiency Syndrome (CRDS) is a recently discovered inherited arrhythmia syndrome that predisposes to malignant ventricular arrhythmias and sudden cardiac death (SCD). The underlying genetic culprit of CRDS is RYR2, which encodes the cardiac ryanodine receptor. In contrast to Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), which stems from pathogenic RYR2 gain-of-function, CRDS manifests secondary to RyR2 loss-of-function. Enrolment into the CRDS registry requires that the putative disease causing RYR2 variant is confirmed to result in a loss-of-function on in vitro functional analysis. Individuals possessing an RYR2 truncating variant or large copy number variant will be eligible for enrolment into a second registry arm. Patients with a suspected CRDS diagnosis whose RYR2 variant is found not to impact function will be entered into a control arm of the registry.

Given its recent discovery, our understanding of CRDS remains in its infancy. The International CRDS registry has been designed to facilitate evaluation of large numbers of CRDS patients and enable robust insights to hopefully improve management of affected patients and families.

Study Timeline

• Study First Submitted: 2024-07-08
• Study First Submitted QC: 2024-07-12
• Study First Posted: 2024-07-18
• Study Start: 2024-11-21
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-24
• Last Update Posted: 2025-04-29
• Primary Completion: 2050-12-31
• Study Completion: 2050-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Malignant Ventricular Arrhythmia	5 years	Composite of malignant syncope, ICD shock, cardiac arrest, and sudden cardiac death

Trial Locations

Locations (6)

Universitair Ziekenhuis Brussel; 🇧🇪 Brussels, Belgium

Hamilton General Hospital; 🇨🇦 Hamilton, Ontario, Canada

London Health Sciences Centre - University Hospital; 🇨🇦 London, Ontario, Canada

Montréal Heart Institute; 🇨🇦 Montréal, Quebec, Canada

Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval; 🇨🇦 Québec City, Quebec, Canada

Shaare Zedek Medical Center; 🇮🇱 Jerusalem, Israel