Marisa Wexler, MS,  senior science writer—

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…

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…

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…

Programs that systematically tested for Fabry disease in nearly 1,000 people with chronic pain at centers in France led to a diagnosis in one individual, a new study reports. The low prevalence suggests systematic testing for Fabry in chronic pain patients “does not seem relevant,” researchers wrote. Nonetheless,…

An international team of scientists has developed a novel algorithm that may help identify people with Fabry disease based on insurance claims data. The model showed particular promise for detecting potential Fabry patients who are young and/or female, according to the study “Unveiling the untreated: development…

Despite available treatments, many people with Fabry disease still experience symptoms that can affect their quality of life, a new study highlights. The findings “may be helpful for healthcare providers and drug developers seeking to improve the care of patients with [Fabry disease] by addressing unmet needs,” researchers wrote…

People with Fabry disease have higher-than-normal levels of three inflammatory markers in their blood, according to a recent study. These markers include elevated neopterin and biopterin levels, and an increased kynurenine-to-tryptophan ratio. The study, “Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease,”…

A woman with Fabry disease was found to have two co-occurring disorders — a heart condition called dilated cardiomyopathy (DCM) and an autoimmune kidney disorder called immunoglobulin A nephropathy (IgAN) — a rare combination. “To the best of our knowledge, this is the first report on such a case,”…

The U.S. Food and Drug Administration (FDA) has advised Sangamo Therapeutics that positive results from a single well-controlled clinical trial, in addition to existing evidence, may be sufficient to form the basis for approving its Fabry disease gene therapy candidate. For Sangamo, that means that one…