International CRDS Registry
Calcium Release Deficiency SyndromeCalcium 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.
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Participation Requirements
-
Sex:
ALL -
Eligible Ages:
0 and up
Participation Criteria
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 Location
Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université Laval
Institut Universitaire de Cardiologie et de Pneumologie de Québec-Université LavalQuébec City, Quebec
Canada
Contact Study Team
Christian Steinberg, MD
Montréal Heart Institute
Montréal Heart InstituteMontréal, Quebec
Canada
Contact Study Team
Rafik Tadros, MD PhD
Hamilton General Hospital
Hamilton General HospitalHamilton, Ontario
Canada
Contact Study Team
Jason D Roberts, MD MAS
- Study Sponsored By
- Population Health Research Institute
- Participants Required
- More Information
- Study ID:
NCT06508164