CRDS Registry

Calcium release deficiency syndrome (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 tools for CRDS.

Enrolment Criteria

Inclusion

Possess:
- A rare* RYR2 variant that is characterized to be loss-of-function based on in vitro testing
OR
- A rare* RYR2 truncating variant and/or large copy number variant involving the RYR2 gene
OR
- A rare* RYR2 variant that is characterized to be neither loss- nor gain-of-function based on in vitro testing
*Rare is defined as gnomAD prevalence < 0.1%.
Exclusion

Individuals who do not meet the specified inclusion criteria will be automatically considered ineligible for participation in the study and will not be approached for recruitment. Inclusion criteria are established to define the target population based on research objectives, ensuring transparency and consistency in participant selection.