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…
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…
For this year’s Fabry Awareness Month — observed every April to bring attention to Fabry disease — the spotlight is on the everyday heroes who live with the rare genetic lysosomal storage disorder. Activities during the month are aimed at heightening awareness among the general public, in addition to…
Scientists have engineered versions of the alpha-galactosidase A (Gal A) enzyme that could eventually be used to produce a more stable and effective enzyme replacement therapy (ERT) for Fabry disease. In animal models, the modified enzymes lasted longer in the bloodstream and showed better activity in target tissues like…
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…
The European Commission (EC) is expected to decide whether to approve PRX-102 (pegunigalsidase alfa) for adults with Fabry disease in early May. The therapy’s co-developers, Protalix BioTherapeutics and Chiesi Global Rare Diseases announced that PRX-102 received a positive opinion from the Committee for Medicinal Products for…
People with Fabry disease often have impairment in the nerves that help regulate heartbeat, which may serve as a prognostic measure to assess heart problems in the disease, a study reports. Mild problems with heart nerves were found in many patients in the disease’s earlier stages who didn’t have…
In previously untreated Fabry disease patients with heart involvement, 18 months of treatment with Galafold (migalastat) stabilized measures of heart disease and was linked to a trend toward improvement in exercise tolerance, an observational study reported These findings provide “new detailed evidence on the effect of migalastat on…
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