Grant: Project Grant

Calcium Release Deficiency Syndrome (CRDS) is an electrical heart condition that can lead to sudden death in young individuals. CRDS is caused by genetic changes in the RyR2 gene and was recently discovered in 2021 through an international collaboration led by a Canadian scientist (Dr. Chen; co-Principal Investigator on this application). The RyR2 gene contains instructions to produce a protein in the heart called the Ryanodine Receptor that is important for the flow of calcium. CRDS develops when a genetic change results in an under active Ryanodine Receptor. Due to its only recently being discovered, our understanding of how to best diagnose and treat CRDS patients is very limited. At present, a CRDS diagnosis requires that the specific genetic change identified in a patient is studied in a research laboratory to confirm that it results in an under active Ryanodine Receptor protein. Unfortunately most doctors and patients do not have access to research laboratories to perform this testing and as a result, we anticipate that most CRDS patients around the world have not been correctly diagnosed. Our team of doctors and scientists believes that we have identified a way to diagnose CRDS through a clinical test that involves pacing the heart. Should our test be proven accurate, it should help doctors correctly diagnose CRDS patients, which should improve both their care and care for their family members. In order to confirm that our test is accurate, we intend to perform a study involving many centres around the world that care for CRDS patients. While performing this study, we also intend to create an International CRDS registry that will enrol patients from around the world. This registry will enable us to carefully study large numbers of CRDS patients and their family members so that we can better understand clinical features of the condition and recognize the best medications that can be used for treatment.