International Calcium Release Deficiency Syndrome (CRDS) Registry
CRDS Registry
Lead PI & Sponsor
Dr. Jason Roberts
Local PI
Dr. Habib Khan
Research Staff
Megan Smith
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.
Target Number of Patients
100
Currently Enrolled
0
Primary Outcomes
- To characterize the phenotypic spectrum of CRDS
- To determine the sensitivity of the LBPLS to induce CRDS ventricular arrhythmias
- To identify risk factors for arrhythmic events in CRDS patients
- To determine the association between beta-blockers and flecainide and the risk of arrhythmic events in CRDS patients
Inclusion Criteria
- A rare* RYR2 variant that is 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 that is 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
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.