Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

The Netherlands
Improve CPVT
Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia: integrating clinical and basic science

Project Coordinator

Academic Medical Centre - University of Amsterdam
The Netherlands


Antoine Leenhardt Bichat Hospital Paris, France
Shubhayan Sanatani University of British Columbia - Children’s Heart Centre - BC Children’s Hospital Vancouver, Canada
Wayne Chen Cumming School of Medicine - University of Calgary Calgary, Canada
Ramon Brugada Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI) Girona, Spain
Kaomei Guan Universitaetsmedizin Göttingen Göttingen, Germany
Calin Siliste University Emergency Hospital, Bucharest - "Carol Davila" University of Medicine and Pharmacy Bucharest,, Romania

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.

E-Rare 2012 - Created by Toussaint Biger