International CRDS Registry
Recruiting
Observational Study
Calcium Release Deficiency Syndrome
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 500 (estimated)
- Sponsor
- Population Health Research Institute · Other
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About This Trial
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.
Trial Locations
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Eligibility 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 …
Contacts