Fabry disease is underdiagnosed across different minority ethnic groups in the U.K., a study suggests. Despite making up about one-fifth of the population of England and Wales, less than 10% of those who received a Fabry diagnosis were ethnic minorities, compared with 90% of the white population. “Further research…
News
A U.S.-based Phase 1/2a clinical trial testing AMT-191, uniQure’s gene therapy treatment for Fabry disease, has completed enrollment of the first patient group, and the company plans to start recruiting for the second group by the end of March. Dosing in the trial began in August 2024.
Five years after receiving the experimental Fabry disease gene therapy AVR-RD-01, kidney function in all five participants remains relatively stable, according to the final results of the Canadian FACTs study, which tested the treatment candidate in men with the condition. All five patients had significant and sustained increases in…
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…
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