Objective
The purpose of this study is to gather phenotypic, genotypic, treatment, and outcome data on a large cohort of patients to better define the natural history, develop genotype-phenotype correlations, and identify prognostic and therapeutic tools for CRDS — a lethal, newly described condition caused by loss-of-function mutations in RYR2.
Background
CRDS is a lethal condition which is newly described, difficult to diagnose, and lacking effective and informed therapies. It is caused by mutations in RYR2 that are loss-of-function rather than CPVT-associated gain-of-function, which makes it clearly unique from both a diagnosis and treatment perspective, but also very easy to misdiagnose as CPVT. We propose to gather phenotypic, genotypic, treatment, and outcome data on a large cohort of patients to better define the natural history, develop genotype-phenotype correlations, and identify prognostic and therapeutic controls for CRDS.
Study Outcomes
Primary
- Characterize the phenotypic spectrum of CRDS
- Determine the sensitivity of the long-burst, long-pause, short-coupled (LBPLS) maneuver to induce CRDS ventricular arrhythmias
- Identify risk factors for arrhythmic events in CRDS patients
- Determine the association between beta-blockers and flecainide and the risk of arrhythmic events in CRDS patients
Secondary
Eligibility Criteria
The criteria below are a summary. Your study doctor will confirm whether this study is right for you.
Inclusion Criteria
- A rare RYR2 variant characterized to be loss-of-function based on in vitro testing
- A rare RYR2 truncating variant and/or large copy number variant involving the RYR2 gene
- A rare RYR2 variant characterized to be neither loss- nor gain-of-function based on in vitro testing
Exclusion Criteria
- Patients who do not meet the specified inclusion criteria
About taking part
If you are considering joining this study, please review the Letter of Information below. It explains the study in detail, including what participation involves, the potential risks and benefits, and your rights as a participant.
CRDS Registry Letter of Information