A new experimental gene therapy may boost the production of alpha-galactosidase A (alpha-Gal A) — the enzyme that’s missing or faulty in Fabry disease — beyond the levels of gene therapies now in development. That’s according to laboratory data from a preclinical study that tested the new gene therapy…
A class of medications commonly used to treat heart and kidney disease, called sodium-glucose co-transporter 2 (SGLT2) inhibitors, appears to be safe in adults with Fabry disease and may offer some benefits for heart health, a study suggested. An analysis of outcomes in 48 patients treated with an SGLT2…
Discussion
Fabry Disease News kicked off April’s Fabry Awareness Month with an article explaining the purpose of the month and how our community can get involved. One way to participate was by joining a virtual run/walk fundraiser hosted by the Fabry Support & Information Group (FSIG). Neighbors gather for…
Elfabrio (pegunigalsidase alfa), when given every four weeks, was generally safe and helped most Fabry disease patients maintain stability for up to five years. The therapy was particularly effective for women and those who did not develop antibodies against the replacement enzyme. That’s according to interim results of…
Discussion
Note: This column describes the author’s own thoughts about Fabry disease treatment. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. Like most boys and men with classic Fabry disease, I do not perspire when my body gets hot from strenuous…
Since its implementation in 2017, newborn screening (NBS) for Fabry disease in Tennessee has sharply increased early diagnosis for baby boys, but continues to miss affected girls, a study found. From 2017 to 2024, statewide screening identified 25 boys with Fabry but no girls. Yet clinical data from roughly…
Children with Fabry disease typically experience long delays before receiving a diagnosis, despite symptoms affecting multiple organs that often emerge in early childhood, a nationwide study in China has found. Overall, a median diagnostic delay of at least four years was seen among the more than 60 children…
Becoming educated and informed about Fabry disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your Fabry disease journey.
There is no cure for Fabry disease yet, but there are treatments that can help manage the disease. Learn more about the approved and experimental therapies here.
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