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…
April is Fabry Awareness Month, and advocates around the world are working to uplift and connect the community, increase awareness about Fabry disease, and support fundraising efforts. For this year’s awareness campaign, the Fabry International Network (FIN) has selected the theme: “Living with Fabry, Your Unique Strength.”…
Discussion
I was met with warm and welcoming smiles when I walked into a boutique hotel near Dallas, Texas, for the recent Fabry Support & Information Group (FSIG) Get Together. There, I spotted a familiar face standing next to a display table. It was Nancy Ngotho, the senior patient education…
A monthly dosing regimen for the infusion therapy Elfabrio (pegunigalsidase alfa) has been approved in the European Union for adults with Fabry disease who are stable on enzyme replacement therapy (ERT). Under the newly cleared regimen, approved by the European Commission, eligible patients may now receive the ERT…
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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