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…
News
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…
More than half of adults with Fabry disease were found to have heart involvement that put them at risk for cardiac events — here, primarily associated with irregular heartbeat and heart failure, according to a new MRI study. While an enlarged heart muscle and scar tissue formation were associated…
PRX-102 (pegunigalsidase alfa) has been approved by the U.S. Food and Drug Administration (FDA) to treat adults with Fabry disease. Now branded Elfabrio (pegunigalsidase alfa-iwxj), the enzyme replacement therapy (ERT) is to be given as an intravenous, or into the vein, infusion every two weeks. It was codeveloped…
Fabry disease remains widely underdiagnosed, especially among women, according to a new population-based study that identified one undiagnosed case per every 3,225 people. The study found that the genetic mutations that cause Fabry, a rare disorder primarily affecting the heart, nervous system, and kidneys, are more common than…
Patients prefer receiving enzyme replacement therapy (ERT) at home, citing savings in travel time and cost, over clinical visits, according to a survey of people with Fabry disease and other lysosomal storage disorders in Germany. “All patients would recommend home-based ERT to other patients” during the two-year follow-up…
Centogene has extended its partnership with Takeda to keep providing genetic testing services for the diagnosis of lysosomal storage disorders, including Fabry disease. Under the new deal, Takeda will continue to access the diagnostics service for another year. Lysosomal storage diseases, which are characterized by an abnormal…
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