People with Fabry disease appear to have an increased capacity to generate thrombin — a key protein involved in blood clot formation — and higher levels of several other clotting-related factors, potentially putting them at a greater risk of developing a blood clot in a blood vessel or the…

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…

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…

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…

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…

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…