Enzyme replacement therapy (ERT) can help to increase the bone density of male patients with Fabry disease, who tend to have lower bone mineral density, a study has found. Female patients, by contrast, were found generally not to have low bone density, and ERT did not substantially change…
A rare pair of mutations were identified as the likely cause of Fabry disease for a young man with cardiac involvement in Japan who was successfully treated with Galafold (migalastat). While the clinical significance of the two mutations has not been well established, researchers believe their combined effects…
An imaging technology called 3D echocardiography, which allows clinicians to visualize the heart in three dimensions and measure the strain on heart tissue when the heart beats, may be useful for assessing heart damage among people with Fabry disease. That’s according to the study, “Three-dimensional echocardiographic…
People with Fabry disease commonly have abnormalities in the brain’s blood vessels, such as unusually thick vessel walls or differences in how the vessels respond to changes in oxygen levels in the blood. That’s according to the study, “Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound,” which…
AceLink Therapeutics’ Phase 2 trial testing AL1211 as a treatment for Fabry disease has been cleared to launch by the U.S. Food and Drug Administration (FDA). The trial will evaluate AL1211’s safety and pharmacological properties in men diagnosed with classic Fabry disease who are willing to switch…
Looking for abnormal, clumped features — dubbed mulberry bodies by scientists — in cells of a person’s urine may be useful for the detection and diagnosis of Fabry disease. That’s according to a new study, titled “Clinical utility of urinary mulberry bodies/cells testing in the diagnosis…
A 55-year-old man with a Fabry disease-related tumor in the large intestine was treated successfully with a nonsurgical procedure called endoscopic rubber band ligation therapy, a case study reported. “[C]olonoscopy surveillance may benefit Fabry’s disease patients with gastrointestinal [obstructions],” researchers wrote, adding that rubber band ligation therapy is a…
Periostin, a protein associated with kidney injury, may be a valuable biomarker of Fabry disease’s related kidney damage, according to new a study in Turkey. Researchers found that blood levels of periostin were correlated to proteinuria — the presence of proteins in the urine — which is one of…
ST-920 (isaralgagene civaparvovec), an experimental gene therapy for Fabry disease that’s currently headed toward Phase 3 clinical testing, has been granted fast track designation by the U.S. Food and Drug Administration (FDA). The FDA gives fast track designation to experimental treatments that have the potential to fill an…
In Fabry disease, a protein called alpha-synuclein forms clumps inside kidney cells, a toxic buildup that isn’t reversed by conventional treatments. Reducing that buildup can reverse cell damage, opening potential avenues for new treatment strategies, according to “Synuclein [alpha] accumulation mediates podocyte injury in Fabry nephropathy,” which…
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