RecruitingNCT06508164
International CRDS Registry
International Calcium Release Deficiency Syndrome Registry
Sponsor
Population Health Research Institute
Enrollment
500 participants
Start Date
Nov 21, 2024
Study Type
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria11
- 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)
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Locations(16)
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NCT06508164