Fabry Disease Insights

Gene Therapy Exempt from GST, Tax Cuts on Cancer and Rare Disease Medicines Expected

Gene therapy has been exempted from GST duty, and there are expectations of cuts on critical medicines for cancer and rare diseases, including fabry disease. This move aims to make these essential treatments more affordable for patients.

In a recent consensus by Brand et al. (2025), experts highlighted the need for individualized treatment approaches for female patients with Fabry disease, given their wide range of disease severity. The variability in symptoms among females may be due to the dynamic nature of X-chromosome inactivation. Early intervention in high-risk females could potentially improve outcomes, despite the lack of data supporting certain diagnostic methods like plasma globotriaosylsphingosine measurement.

Meanwhile, Schmaderer (2025) is investigating the retinal microvasculature in Fabry patients to find non-invasive markers for assessing disease severity and cardiovascular risk. This could lead to better monitoring and management of the disease.

Lastly, Giacalone et al. (2025) discovered a novel pathogenic variant of the GLA gene, expanding the understanding of genetic factors contributing to Fabry disease. This new insight could improve diagnostic accuracy for individuals presenting with symptoms of this multisystemic disorder.