Grant for Rare disease research

For a rare condition like CPVT, an inherited cardiac arrhythmia syndrome with a prevalence of 1 in 10,000 that causes sudden cardiac death, therapies are not always accessible. Catalyze wrote a proposal for a consortium led by the Academisch Medisch Centrum in Amsterdam, resulting in an ERA-Net E-Rare grant.

This funding will allow research into an effective strategy for rationalizing therapies based on an individual’s risk profile, thereby reducing morbidity and preventing SCD.

Bringing together global clinical leaders and experts

At present, cardiologists who are experts in inherited rhythm disorders do not have optimal risk stratification tools or effective interventions for CPVT. This project brings together global clinical leaders and basic scientists with expertise in inherited arrhythmia conditions and national and international registries. An international CPVT registry and corresponding biobank will be established to identify new genes, correlate genotype with phenotype and generate risk prediction algorithms for clinical use. The project will also enhance understanding of RYR2 mutations in CPVT. By treating CPVT patients according to risk stratification based on demographics, family history, clinical presentation and genetics, the aim is to improve patient outcomes and save lives.

The ERA-Net E-Rare grant is aimed at enhancing the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field.


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