Women severely affected by Fabry disease and treated with enzyme replacement therapy (ERT) and untreated women with less severe symptoms showed broadly stable disease course over five years, a study in Germany found. Treatment decisions were primarily based on the European guidelines for females with Fabry, which recommend…
SGLT2 inhibitors, medications approved for diabetes, could be used in Fabry disease to reduce albuminuria, which occurs when damaged kidneys let a large protein called albumin pass into the urine, according to a real-world study in adults with Fabry disease. Because patients were followed for a short period of…
A Fabry disease diagnosis for a woman in Portugal came only after she had a stroke in her early 40s, according to a new report in which the scientists highlighted “the importance of early diagnosis,” especially in nontypical cases. “The observed cerebrovascular [brain blood flow] complications [in this case]…
Throughout 2024, the team at Fabry Disease News brought our readers all the latest updates on research related to Fabry disease and advances in diagnosis and treatment. Here is a list of the 10 most-read articles of last year. We look forward to continuing to be a resource to…
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…
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