International CRDS Registry (CRDS Registry)

May 28, 2026 updated by: Population Health Research Institute

International Calcium Release Deficiency Syndrome Registry

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.

Study Overview

Status

Recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Jason D Roberts, MD MAS
  • Phone Number: 40632 905-297-3479
  • Email: crds@phri.ca

Study Locations

  • Australia
    • New South Wales
      • Darlinghurst, New South Wales, Australia, 2010
        • Recruiting
        • Garvan Institute of Medical Research
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Jodie Ingles, PhD, MPH
  • Belgium
      • Brussels, Belgium, 1090
        • Recruiting
        • Universitair Ziekenhuis Brussel
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Luigi Pannone, MD
    • Antwerp
      • Edegem, Antwerp, Belgium, 2650
        • Recruiting
        • Antwerp University Hospital
        • Principal Investigator:
          • Johan Saenen, MD, PhD
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
  • Canada
    • Alberta
      • Calgary, Alberta, Canada, T2N 1N4
        • Recruiting
        • University of Calgary
        • Principal Investigator:
          • Erkan Ilhan, MD
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
    • British Columbia
      • Vancouver, British Columbia, Canada, V6H 3N1
        • Recruiting
        • Children's & Women's Health Centre of British Columbia
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Shubhayan Sanatani, MD
    • Ontario
      • Hamilton, Ontario, Canada, L8L 2X2
        • Recruiting
        • Hamilton General Hospital
        • Principal Investigator:
          • Jason D Roberts, MD MAS
        • Contact:
      • London, Ontario, Canada, N6A 5A5
        • Recruiting
        • London Health Sciences Centre - University Hospital
        • Principal Investigator:
          • Habib R Khan, MD
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
    • Quebec
      • Montreal, Quebec, Canada, H1T 1C8
        • Recruiting
        • Montreal Heart Institute
        • Principal Investigator:
          • Rafik Tadros, MD PhD
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
      • Québec, Quebec, Canada
        • Recruiting
        • Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval
        • Principal Investigator:
          • Christian Steinberg, MD
        • Contact:
  • Denmark
      • Aarhus, Denmark, DK-8200 N
        • Recruiting
        • Aarhus University Hospital
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Henrik Jensen, MD
  • France
    • New Aquitaine
      • Bordeaux, New Aquitaine, France, 33404
        • Recruiting
        • CHU de Bordeaux
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Frédéric Sacher, MD
  • Israel
      • Jerusalem, Israel, 9103102
        • Recruiting
        • Shaare Zedek Medical Center
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Ziv Dadon, MD
  • United Kingdom
      • London, United Kingdom, EC1V 0HB
        • Recruiting
        • City St George's, University of London
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Mark Specterman, MBBS, MRCP, PhD
  • United States
    • California
      • San Francisco, California, United States, 94143
        • Recruiting
        • University of California
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Vasanth Vedantham, MD, PhD
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Recruiting
        • Mayo Clinic
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • John Giudicessi, MD, PhD
    • North Carolina
      • Durham, North Carolina, United States, 27710
        • Recruiting
        • Duke University
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Andrew Landstrom, MD, PhD
    • Virginia
      • Fairfax, Virginia, United States, 22031
        • Recruiting
        • Inova Health Care Services
        • Contact:
          • Project Manager
          • Phone Number: 905-521-2100
          • Email: crds@phri.ca
        • Principal Investigator:
          • Robert Przybylski, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The registry will enrol 3 separate cohorts. The primary cohort consists of CRDS cases. A CRDS case is defined as an individual that possesses a rare RYR2 variant proven to be loss-of-function on in vitro analysis. A second cohort consists of individuals that possess a rare RYR2 truncating variant or large copy number variant. The third cohort involves individuals suspected of having CRDS, however in vitro analysis revealed that their rare RYR2 variant did not impact function.

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
CRDS
Possesses a rare RYR2 variant characterized to be loss-of-function based on in vitro testing consistent with a CRDS diagnosis
Carrier of an RYR2 truncating variant or large copy number variant
Possesses a rare RYR2 truncating variant and/or large copy number variant involving the RYR2 gene.
Carrier of a non-functional RYR2 rare variant
Possesses a rare RYR2 variant that is NOT loss-of-function based on in vitro testing and has a clinical phenotype that was considered compatible with CRDS

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Malignant Ventricular Arrhythmia
Time Frame: 5 years
Composite of malignant syncope, ICD shock, cardiac arrest, and sudden cardiac death
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Population Health Research Institute

Collaborators

Canadian Institutes of Health Research (CIHR)

Investigators

  • Principal Investigator: Jason D Roberts, MD MAS, McMaster University
  • Study Chair: Thomas M Roston, MD, PhD, University of British Columbia
  • Principal Investigator: SR Wayne Chen, PhD, University of Calgary

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 21, 2024

Primary Completion (Estimated)

December 31, 2050

Study Completion (Estimated)

December 31, 2050

Study Registration Dates

First Submitted

July 8, 2024

First Submitted That Met QC Criteria

July 12, 2024

First Posted (Actual)

July 18, 2024

Study Record Updates

Last Update Posted (Actual)

June 1, 2026

Last Update Submitted That Met QC Criteria

May 28, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 16861

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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