Project: Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia: integrating clinical and basic science
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac arrhythmia syndrome with a prevalence of 1 in 10,000 that causes sudden cardiac death (SCD). It is one of the most lethal channelopathies, most commonly due to mutations in the ryanodine receptor (RYR2). CPVT is characterized by exercise- or emotion-induced ventricular arrhythmias in the absence of ECG or structural cardiac abnormalities, making diagnosis difficult. At present, cardiologists who are experts in inherited rhythm disorders do not have optimal risk stratification tools or effective interventions for CPVT. This proposal brings together global clinical leaders and basic scientists with expertise in inherited arrhythmia conditions and national and international registries. The overall objective of this CPVT research program is to develop an effective strategy for rationalizing therapies based on an individual’s risk profile, thereby reducing morbidity and preventing SCD. To achieve this objective, we will establish an international CPVT registry and corresponding biobank to identify new genes, correlate genotype with phenotype and generate risk prediction algorithms for clinical use. Further, we will enhance our understanding of RYR2 mutations in CPVT by basic research including developing patient specific pluripotent stem-cell-derived cardiomyocytes which recapitulate the CPVT phenotype in vitro. By treating CPVT patients according to risk stratification based on demographics, family history, clinical presentation and genetics, we aim to improve patient outcomes and save lives.
| Acronym | Improve CPVT |
| Duration | 01/01/2016 - 01/12/2018 |
| Project Topic | 7th JOINT CALL FOR EUROPEAN RESEARCH PROJECTS ON RARE DISEASES (JTC 2015) |
| Network | E-Rare-3 |
| Call | E-Rare-3 JTC 2015 |
Project partner
| Number | Name | Role | Country |
|---|---|---|---|
| 1 | Academic Medical Centre - University of Amsterdam | Coordinator | Netherlands |
| 2 | Bichat Hospital | Partner | France |
| 3 | University of British Columbia - Children’s Heart Centre - BC Children’s Hospital | Partner | Canada |
| 4 | Cumming School of Medicine - University of Calgary | Observer | Canada |
| 5 | Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI) | Partner | Spain |
| 6 | Universitaetsmedizin Göttingen | Observer | Germany |
| 7 | University Emergency Hospital, Bucharest - "Carol Davila" University of Medicine and Pharmacy | Observer | Romania |