Enzyme replacement therapy (ERT) may help limit damage to blood vessels in the kidneys of people with Fabry disease, a new study reports. Specifically, the study found that people with Fabry who had been on ERT for longer had higher levels of VEGF-165b. This molecule is known to…
Treatment with the experimental gene therapy AMT-191 led to increases in levels of the enzyme whose deficit causes Fabry disease for four patients in an early clinical trial. As a result, enzyme replacement therapy (ERT) was discontinued for all patients. AMT-191 is being developed by Uniqure,…
Looking at blood vessels in the eye in people with Fabry disease may give clinicians new insights into problems with blood vessel regulation in the body — and help explain the increased risk of stroke and other complications in Fabry patients. That’s according to a new study, led by…
Fatty deposits called myeloid bodies in urine may help diagnose Fabry disease and monitor how people with Fabry are responding to treatment, a study showed. The study, “Urinary Myeloid Bodies as a Biomarker for Early Diagnosis and Monitoring of Enzyme Replacement Therapy in Fabry Disease,” was…
Fabry disease patients showed improvements in kidney function in the year following a single dose of gene therapy ST-920 (isaralgagene civaparvovec), and reductions in disease severity were seen at a median of two years after treatment. That’s according to top-line data from the Phase 1/2 STAAR trial…
Levels of certain molecules in the blood may help track disease activity and kidney damage in Fabry disease, a study found. “These biomarkers may play a crucial role in improving clinical management by facilitating early diagnosis and personalized treatment strategies for” Fabry disease, researchers wrote in the study, “…
For Fabry Awareness Month this April, the Fabry International Network, or FIN — an alliance of 61 patient organizations in 57 countries — is shining a spotlight on doctors who have focused on caring for people with the rare inherited disease, helping patients better understand the disorder, get accurate…
People with different lysosomal storage diseases have varying beliefs about prescribed medicines, which reflect their current medical needs, a study has found. Particularly, attitudes toward treatment in Fabry disease vary according to gender and are different in Fabry and other related disorders. According to researchers, these beliefs should be…
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…
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