A gene therapy treatment increased levels of the deficient alpha-glactosidase A (Gal A) enzyme in the organs of mice in a model of Fabry disease, according to a new study. Results showed the gene therapy approach reduced the toxic buildup of fatty molecules in most organs assessed, but not…
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…
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…
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…
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…
Freeline Therapeutics is pausing development of FLT190, an experimental gene therapy for Fabry disease. The move will let the company free up funds to focus on advancing FLT201, a gene therapy being developed to treat another genetic disorder called Gaucher disease. “While we remain encouraged by the…
The same mutation caused both late-onset and classic forms of Fabry disease among different members of the same family, according to a new report. “To our knowledge, there are no previous reports showing that the same missense mutation causes both late-onset and classic form of [Fabry disease] in male…
Testing family members of people diagnosed with Fabry disease can identify new individuals with the condition and improve their health outcomes, a recent study highlights. “Family screening is of great significance in finding new patients with [Fabry disease],” the researchers wrote. “Therefore, genetic counseling should be recommended to all…
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