Switching from the enzyme replacement therapy (ERT) agalsidase alfa to Fabrazyme (agalsidase beta) was associated with reduced pain and lower levels of a disease biomarker in a boy with classic Fabry disease, according to a case report from Japan. The boy was diagnosed through newborn screening and…
Discussion
Four family members with Fabry disease carrying the same GLA mutation showed markedly different neurological manifestations, ranging from recurrent strokes to nerve pain and hearing loss, according to a case series. Brain small-vessel disease was detected in three evaluated adults, while the youngest family member, an 18-year-old girl, had…
Discussion
PTC Therapeutics has been selected as the winning bidder to acquire ST-920 (isaralgagene civaparvovec), a one-time gene therapy candidate for Fabry disease, from the therapy’s original developer, Sangamo Therapeutics, in a competitive bankruptcy auction. PTC said it will leverage existing regulatory and commercial infrastructure, and expects to…
Discussion
When Jack Johnson helped found the Fabry Support & Information Group (FSIG) 30 years ago, he was driven by his own experience living with the rare genetic disorder — and a determination to ensure no other family had to navigate Fabry disease alone. Now, as the organization marks…
Discussion
People with Fabry disease and their doctors often view important aspects of diagnosis and treatment differently, and these perception gaps could contribute to suboptimal disease management, according to a survey from South Korea. While both groups agreed on the importance of an accurate diagnosis and genetic counseling for…
Discussion
uniQure‘s investigational gene therapy AMT-191 markedly boosted the levels of the enzyme whose deficiency causes Fabry disease in all patients dosed thus far in a small clinical trial. Further, each of the 11 adults with Fabry taking part in the Phase 1/2 study (NCT06270316) was able…
Discussion
People with Fabry disease who develop antidrug antibodies (ADAs) against enzyme replacement therapy (ERT) tend to show higher levels of disease-related biomarkers and experience more infusion-related reactions than those without these antibodies. The review of 24 studies found the link between ADAs and kidney and heart outcomes was…
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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