The study, led by Murdoch Children’s Research Institute (MCRI) and published in Nature Cardiovascular Research, found that delivering a healthy copy of the ALPK3 gene in a single injection reversed heart muscle disease in lab-grown patient heart tissue and mouse models.

Variants in the ALPK3 gene can cause cardiomyopathy, a group of diseases that affect the heart’s ability to pump blood around the body, leading to enlarged hearts with weak and irregular heartbeats. Patients with cardiomyopathy, affecting about 30 million people, are at greater risk of heart failure and death, and treatment options are limited.

Remarkably, the study also found the gene therapy might help correct other genetic heart diseases, not just those caused by ALPK3 variants, such as those affected by the MYH7 gene and TTN truncating variants (TTNtv), the most common genetic cause of dilated cardiomyopathy.