Fabry Disease Insights

Fabry Gene Therapy Maintains Kidney Function

February 06, 2025

Top Stories

Fabry Gene Therapy Maintains Kidney Function

In a study, five men with Fabry disease had stable kidney function five years after receiving a gene therapy, showing potential for long-term benefits. This approach may reduce the need for ongoing enzyme treatments.

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Chiesi Presents New Data at WORLD Symposium

Chiesi Global Rare Diseases is sharing insights on Fabry disease management, including data on pegunigalsidase alfa, which may improve treatment tolerability for patients. This research could enhance understanding and treatment strategies for Fabry disease.

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Amicus Therapeutics Announces WORLDSymposium Presentations

Presentations by Amicus Therapeutics at WORLDSymposium focus on advancements in lysosomal disorders, potentially impacting research into conditions like Fabry Disease by sharing new findings and collaborations.

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Latest Research

In a study by Nojiri et al. (2025), speckle tracking echocardiography was used to evaluate early contractile dysfunction in Japanese patients with Fabry disease. The study involved 56 patients and 28 control subjects. The researchers found significant differences in global longitudinal strain (GLS) and longitudinal strain (LS) in the anterolateral region of the left ventricle among patients with and without left ventricular hypertrophy (LVH), and controls.

Notably, even in patients without LVH, there was a detectable decrease in GLS and anterolateral LS compared to controls. The study determined cutoff values for GLS and anterolateral LS that could distinguish patients with Fabry disease without LVH from healthy controls, with moderate sensitivity and specificity. These findings suggest that such echocardiographic measures could be useful in the early detection of heart involvement in Fabry disease, potentially guiding timely therapeutic interventions.