News

In interviews, people living with Fabry disease in Spain reported a number of unmet needs — among them a general dearth of understanding of the condition’s challenges — that negatively impact patient quality of life. Topping the patients’ main concerns were the scant knowledge about Fabry among work colleagues,…

The European Medicines Agency (EMA) has validated a regulatory application that seeks clearance of a less frequent regimen of Elfabrio (pegunigalsidase alfa), an approved enzyme replacement therapy (ERT) for adults with Fabry disease. If the agency decides to approve the variation application after its review, Fabry patients in…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to EXG110, an experimental gene therapy for Fabry disease that’s being developed by Exegenesis Bio and is currently in clinical testing. “The FDA’s decision to grant orphan drug designation to EXG110 highlights the need for better…

A machine learning algorithm to find patterns in data from infrared spectroscopy — a technique that can provide a molecular fingerprint by looking at how molecules in a sample take up light and reflect it — correctly distinguished people with Fabry disease from healthy adults in a pilot study,…

Long-term enzyme replacement therapy (ERT) normalizes markers of inflammation and oxidative stress in adults with Fabry disease, a study found. “These findings lead us to believe that long-term ERT can improve the redox status and protect these individuals against oxidative … stress, as well as the inflammatory process,”…

A 10-year-old boy diagnosed with Fabry disease was also found to have a rare blood disorder called congenital dyserythropoietic anemia (CDA) in a case researchers said was highly unusual. In CDA, anemia, that is, a shortage of red blood cells that transport oxygen in the bloodstream, results in symptoms…

Amicus Therapeutics and Teva Pharmaceuticals have struck a deal that will allow the latter to sell a generic version of Galafold (migalastat), Amicus’ chaperone therapy for Fabry disease, to patients in the U.S. Under the agreement, Teva will have its clearance on Jan. 30, 2037, assuming the…

Treatment with Elfabrio (pegunigalsidase alfa), given at more spaced intervals and at a higher dose than that approved for Fabry disease, appears to be safe and effective for adults with stable disease, data from a Phase 3 clinical study suggests. Developed jointly by Chiesi Global Rare Diseases…

Data from an ongoing Phase 1/2 clinical study of ST-920 (isaralgagene civaparvovec), an investigational gene therapy for Fabry disease, could serve as the main evidence for its accelerated approval by the U.S. Food and Drug Administration (FDA), eliminating the need for an additional registrational study to confirm its clinical…

A wide array of symptoms that affected the kidneys and cardiovascular and nervous systems led to a diagnosis of Fabry disease for a 32-year-old woman, a study in India shows. Given that Fabry has been historically considered a male disease and that women carrying a Fabry-causing mutation may not…