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International CRDS Registry

International Calcium Release Deficiency Syndrome Registry

Who can join

All ages · All sexes

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)

About the study

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.

Sponsor: Population Health Research Institute · Participants: 500 · Started: Nov 21, 2024

Contact the study team

• Jason D Roberts, MD MAS · Phone: 905-297-3479

Official record on ClinicalTrials.gov — NCT06508164

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.