Advanced gene therapy for life-threatening heart conditions

Juan Antonio Bernal

Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.), Madrid, Spain

Arrhythmogenic cardiomyopathy (ACM) is a rare inherited heart muscle disease (prevalence 1:2.000-5.000) characterized by a high risk of ventricular arrhythmias. While uncommon overall, ACM represents the second most frequent cause of sudden cardiac arrest in young individuals and athletes. Although the altered gene is known, more than 1000 mutations have been found to be causing ACM, making it a significant challenge to find a working therapy. Current treatments manage symptoms but do not prevent disease progression, highlighting the need for innovative therapies.

This project seeks to develop new gene therapies that go beyond current methods, which only add a healthy gene copy. These new therapies will target complex mutations more effectively. To achieve this, researchers are creating the first-ever minipig model of ACM, as minipig hearts closely resemble human hearts. This model will allow for more accurate study and testing of the disease and potential treatments, assessing their effectiveness in reducing ACM symptoms and progression.

Alltogether, these advancements could significantly improve treatment options for patients with ACM and set a precedent for precision treatments in other inherited cardiac diseases. Furthermore, by addressing the limitations of current gene therapy methods, it aims to provide better solutions for high-risk patients and advance the field of cardiovascular gene therapy, providing treatment options for genetic heart diseases and offering new hope to patients and their families.

Improving gene therapy for life-threatening heart conditions

€498.352,00