A new gene editing therapy for transthyretin amyloidosis (ATTR) has shown safety and effectiveness in a Phase I clinical trial conducted by UCL and the Royal Free Hospital.

This innovative therapy employs CRISPR-Cas9 technology to inactivate a gene in the liver responsible for transthyretin production, significantly reducing its levels.

The trial involved 36 patients who received a one-time intravenous infusion of the therapy, with follow-up results indicating that most patients experienced stabilization or improvement of their condition after 12 months.

Current treatment options for ATTR primarily focus on managing symptoms such as breathlessness, fatigue, and dizziness, rather than addressing the underlying cause.

Despite starting the trial with advanced heart failure symptoms, most patients reported positive outcomes, highlighting the therapy's potential.

Professor Marianna Fontana, the lead author of the study, expressed optimism that this treatment could help early-stage patients maintain their quality of life without the need for ongoing therapy.

Professor Julian Gillmore noted that the trial successfully demonstrated the selective and permanent inactivation of a gene in humans, paving the way for future treatments for various diseases.

Building on these promising results, a global Phase III clinical trial is currently underway, involving over 700 patients to further evaluate the therapy's effectiveness.

The findings from the Phase I trial were published in the New England Journal of Medicine, offering hope to patients suffering from ATTR, a condition that leads to heart failure due to amyloid protein buildup.

Patients with ATTR often face severe health declines and potential fatality due to symptoms like breathlessness, fatigue, and numbness.