For Patients

The PLN disease is a currently uncurable heart muscle disease caused by a genetic mutation in the DNA. Carriers of this mutation are exposed to a major health risk which may express itself in moderate to very serious heart failure, arrhythmias and sudden premature death. The ultimate goal of all investigators united in CURE-PLaN is to cure PLN induced heart failure in humans.

Our consortium is driven by a strong interaction with patient representatives and established researchers. In fact the PLN Patient Foundation was formed 3 years ago to focus on combatting this disease. Some of the established collaborations started with the identification of mutations in genes related to arrhythmias. Team members generated mouse models and showed that pharmacological interventions that correct calcium handling or genetic editing can ameliorate the HF phenotype. More recently, we have generated PLN mutant patient iPSC lines and by genome editing we restored the contractile function. Although these are encouraging results, there is still a huge gap to the clinic. Using state of the art technology and through continued synergistic collaborations we can make significant contributions to the valorisation of knowledge for the benefit of patients.

PLN-Care Registry

PLN concerns an “orphan”-disease for which about a thousand carriers have been currently identified worldwide. It is of great importance for us to have as much data available of PLN-carriers and patients as possible.