Cysts in the kidneys are more common in people with Fabry disease than in other diseases that affect the kidneys, which is why a new study suggests that looking for ... Read more
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare ... Read more
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the ... Read more
The first patient dosed with AVR-RD-01, an investigational gene therapy being tested in the ongoing Phase 2 FAB-GT clinical trial in people with Fabry disease, showed a 100% reduction, or complete ... Read more
While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs ... Read more
A charitable program can help people with lysosomal storage disorders, such as Fabry disease, who live in underserved communities worldwide gain access to essential treatments, a study reports. The study, “A ... Read more
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to ... Read more
ThinkGenetic is set to release a version of its online interactive tool to help in the diagnosis of Fabry disease as part of upcoming pilot initiatives by Takeda Pharmaceutical. The ... Read more
Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for ... Read more
A first patient has been treated with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy for Fabry disease that is under review for approval, through an expanded access program (EAP) in the United States. “The ... Read more
