Recruiting

Observational StudyInternational CRDS Registry

Sponsor:

Population Health Research Institute

Code:

NCT06508164

Conditions

Calcium Release Deficiency Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Calcium Release Deficiency Syndrome

Study ID

NCT06508164

Start date

Nov 21, 2024

Status verified date

Jun, 2026

Completion date

Dec 31, 2050

Anticipated

Primary completion date

Dec 31, 2050

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Primary outcome measure

Malignant Ventricular Arrhythmia [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Jason D Roberts, MD MAS

905-297-3479 crds@phri.ca

Locations

University of California

Recruiting

San Francisco, California, United States, 94143

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Vasanth Vedantham, MD, PhD

Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

John Giudicessi, MD, PhD

Duke University

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Andrew Landstrom, MD, PhD

Inova Health Care Services

Recruiting

Fairfax, Virginia, United States, 22031

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Robert Przybylski, MD

University of Calgary

Recruiting

Calgary, Alberta, Canada, T2N 1N4

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Erkan Ilhan, MD

Children's & Women's Health Centre of British Columbia

Recruiting

Vancouver, British Columbia, Canada, V6H 3N1

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Shubhayan Sanatani, MD

The University of British Columbia

Recruiting

Vancouver, British Columbia, Canada, V6T 1Z3

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Thomas M Roston, MD

Hamilton General Hospital

Recruiting

Hamilton, Ontario, Canada, L8L 2X2

Contacts

905-521-2100 crds@phri.ca

Principal Investigator:

Jason D Roberts, MD MAS

London Health Sciences Centre - University Hospital

Recruiting

London, Ontario, Canada, N6A 5A5

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Habib R Khan, MD

Ottawa Heart Institute

Recruiting

Ottawa, Ontario, Canada, K1Y 4W7

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Simon Hansom, MD

Montréal Heart Institute

Recruiting

Montreal, Quebec, Canada, H1T 1C8

Contacts

Project Manager

905-521-2100 crds@phri.ca

Principal Investigator:

Rafik Tadros, MD PhD

Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval

Recruiting

Québec, Quebec, Canada

Contacts

905-521-2100 crds@phri.ca

Principal Investigator:

Christian Steinberg, MD

More Information

Sponsor

Population Health Research Institute

Last update posted

Aug 31, 2026

Last verified

Jun, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Population Health Research Institute on 2026-08-31.