Gene therapy is emerging as a potentially curative option for cardiomyopathies, as highlighted in a recent review published in the International Journal of Molecular Sciences.

Cardiomyopathy, which affects heart muscle function and can lead to reduced blood pumping ability and arrhythmias, is often progressive and currently lacks a cure.

Existing treatments for cardiomyopathies primarily alleviate symptoms or slow disease progression, failing to address the underlying genetic causes.

Currently, approved gene therapies for cardiac amyloidosis include Onpattro, Amvuttra, Tegsedi, and Wainua, which function as gene silencing agents.

Research is exploring various gene therapy approaches, including gene replacement, genome editing, and gene silencing, to enhance treatment options.

In Pompe disease trials, researchers aim to deliver functional copies of the enzyme acid alpha-glucosidase using adenoviruses as vectors.

However, the cost of gene therapies can exceed $3 million, with U.S. spending on these treatments estimated at $35 billion to $40 billion annually, raising concerns about accessibility.

Ethical considerations surrounding gene therapies include ensuring patient understanding of risks and benefits, particularly in light of their high costs.

As our understanding of the genetic basis of these disorders improves, gene therapy could significantly transform cardiac care.

Ongoing trials are investigating gene therapies for rare heart diseases, including Danon disease, Fabry disease, Pompe disease, and Friedreich ataxia.

Specifically, Danon disease is undergoing a gene therapy trial with RP-A501, expected to conclude in 2025, while trials for Fabry disease are focusing on safety and efficacy.

A trial for Friedreich ataxia is evaluating treatment in about 25 patients, set to end in 2029, alongside three ongoing trials for arrhythmogenic cardiomyopathy with results expected by 2026.