Fabry Disease Insights

Cell and gene therapies are transforming rare disease treatment, offering new hope where options were once limited. But how do they work, and what choices exist for your community?

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In their study, Elçin-Guinot et al. (2025) introduced a new method for detecting Gb3, a substance that builds up in cells due to Fabry disease. They used two types of lectins, StxB and LecA, which bind specifically to Gb3. These lectins were found to be more sensitive and consistent than the current anti-Gb3 antibodies when tested in Fabry fibroblasts using flow cytometry and confocal microscopy.

Additionally, the researchers analyzed sphingolipid metabolism in Fabry fibroblasts and cells lacking α-Gal A, an enzyme deficient in Fabry disease, using a sophisticated technique called tandem liquid chromatography-mass spectrometry. Their findings suggest that lectins could be a powerful tool for diagnosing and researching Fabry disease, and they also provided new insights into how the disease affects sphingolipid metabolism in human cells.