Patisiran appears to be effective in stabilizing cardiac disease in hereditary transthyretin amyloidosis (hATTR), according to a study published in the European Heart Journal. 

hATTR is a multisystemic disorder that has a diverse phenotype. Patients may have different sets of presenting complaints, depending on the stage of the disease, their age, and/or the type of genetic variant that they possess. The most commonly affected systems of the body are cardiological and neurological. 

Upon a diagnosis of hATTR, a thorough assessment of possible pathologies is typically carried out. Some patients may primarily present with cardiac symptoms, whereas others have prominent signs of polyneuropathy. Regardless of the disease phenotype, advancements in hATTR care have led to quicker diagnoses and more precise therapeutics. 

Among the experimental therapies used in hATTR that are gaining traction are gene editing therapies and those targeting RNA. Patisiran is a small interfering RNA that is intended for patients with hATTR-associated polyneuropathy, with or without concurrent cardiac disease. The authors of the study assessed whether this therapeutic can result in cardiac function improvements in patients with hATTR. 

Read more about hATTR etiology 

They carried out a prospective study involving 31 participants with hATTR. Among the 31 were 7 with cardiac amyloidosis and polyneuropathy, 13 with polyneuropathy without cardiac disease, and 11 without any clinical manifestations in either disease category. All noncarrier participants were administered patisiran. Participants underwent extensive cardiological evaluations at baseline and at an average of 20 months after the initiation of patisiran therapy. 

The results indicated that patients with polyneuropathy without cardiac disease remained clinically stable. As for patients with cardiac amyloidosis, patisiran resulted in significant improvements in various cardiac parameters, such as global longitudinal strain and atrial stiffness. Parameters such as global work index, global constructive work, and global work efficiency also increased during follow-up. 

The authors concluded that patisiran stabilizes cardiac disease in patients with hATTR; larger-scale studies are needed to validate their findings. 


Di Lisi D, Brighina F, Di Stefano V, et al. Effect of patisiran on myocardial deformation parameters in patients with hereditary transthyretin amyloidosis. Eur Heart J. Published online June 19, 2023. doi:10.1093/ehjci/jead119.396