Europe’s research and innovation funding programme Horizon has granted research teams 8M euro funding for the development of new effective therapies for rare diseases. The Netherlands Heart Institute (NLHI) is the coordinator of this consortium, called GEREMY. The goal of this project is to find a cure for inherited arrhythmogenic cardiomyopathy (ACM), a rare cardiac disease.
The GEREMY consortium will engineer disease models for proper assessment of therapeutic interventions and aims to provide in vitro and in vivo preclinical proof-of-concept for various promising gene therapy approaches (oligonucleotide chemistries, gene editing and gene modulation).
Based on previous successes, GEREMY will target 2 genes that are often mutated in ACM patients, PLN and PKP2, as a roadmap of the technology. Restoring the primary, disease causing defect in the PLN and PKP2 mutation carriers will lead to preserving or even restoring myocardial contractility. Through this approach, GEREMY will work towards a curative treatment of inherited ACM and likely other cardiomyopathies, which have a very significant impact on the healthcare system.
The main applicant for the GEREMY project is Pieter Doevendans (NLHI): “This grant means a lot to me as a clinical scientist. It will literally take our research field to the next level: from studying disease in a dish to assessing therapeutic efficacy in relevant preclinical models and determining patients needs. We will work to develop not only a treatment to reduce symptoms, but try to develop a cure for this rare cardiac disease. We are proud and grateful for the support of the dutch PLN Foundation supporting the formation of the consortium.”
The project brings together all expertises required to transform GEREMY into a translational success. Experts in clinical, preclinical research and cardiac genetics (Pieter Doevendans – NLHI/UMCUtrecht, Eva van Rooij – Hubrecht Institute/ UMCUtrecht, Peter van der Meer – UMCGroningen, Christian Kupatt – University Munich Germany, Seppo Yla-Herttuala – University of Eastern Finland, Mauro Giacca – King’s college London UK) will deliver preclinical efficacy and safety data for the mutation correction. The partners with regulatory and clinical trial expertise (EXOM Italy, UEF Finland, NLHI Netherlands) will prepare for immediate start of clinical trials upon project completion, and apply for orphan drug designation. EUPATI, a european patient organisation and KUL (Leuven Belgium) ethics partner will ensure that the project is continuously aligned with patient needs and ethical perspectives.