A new diagnostic tool that can screen for up to six lysosomal storage disorders, including Fabry disease, in newborns is now available in the United States. PerkinElmer, the kit’s developer, received U.S. Food and Drug Administration (FDA) clearance for commercial use of its NeoLSD MSMS Kit to…
Japanese researchers have used stem cells from Fabry patients to create an innovative laboratory model that mimics heart disease in a culture dish. They are now planning to use this in vitro disease model as a screening system to promote drug discovery and to improve the prognosis of patients with Fabry…
The U.S. Food and Drug Administration has granted accelerated approval to Galafold (migalastat) 123 mg capsules to treat adults with a confirmed diagnosis of Fabry disease who have an amenable galactosidase alpha gene (GLA) mutation. “This FDA approval of Galafold is a transformative moment for people in the U.S. living…
In a preclinical animal study, JCR Pharmaceuticals’ biosimilar candidate JR-051 was seen to be as effective as the approved therapy Fabrazyme (agalsidase beta) at reducing levels of globotriaosylceramide (Gb3), a fat molecule that accumulates in Fabry disease. The study’s results add to previous Phase 2/3 clinical data and suggest that JR-051…
Women with Fabry disease can suffer from significant disease that affects several organs, and should be closely monitored for possibly starting enzyme replacement therapy, recent research shows. The study, “Major Organic Involvement in Women with Fabry Disease in Argentina,” was published in the Scientific World Journal. Fabry disease…
Chiesi, an Italian pharmaceutical company, has acquired the exclusive rights to develop and commercialize PRX-102 (pegunigalsidase alfa) in the U.S. as an investigative therapy for Fabry disease. The agreement expands upon the previously established partnership with PRX-102’s developer, Protalix BioTherapeutics, which had granted Chiesi the development and…
Urine-derived cells from patients with Fabry disease are a promising diagnostic tool and an adequate cellular model to study the disease, according to German researchers. Their study, “Urine-derived cells: a promising diagnostic tool in Fabry disease patients,” was published in Scientific Reports. Fabry disease is caused by mutations in the…
Lucerastat, an investigative oral therapy currently in late-stage clinical development at Idorsia Pharmaceuticals, successfully reduced the accumulation of a type of fat associated with disease worsening in cells from patients with Fabry disease. Researchers believe this medication is suitable for all Fabry patients regardless of their genetic background,…
A European panel of experts has defined a set of organ-specific therapeutic goals for Fabry disease, based on a systematic literature review and expert consensus. These therapeutic goals are discussed in the study, “European expert consensus statement on therapeutic goals in Fabry disease,” recently published in Molecular…
A handheld imaging device may help physicians confirm a diagnosis of Fabry disease in patients, according to a case report. This noninvasive technique, called handheld in vivo reflectance confocal microscopy (HH-RCM), can provide high-resolution, real-time images of skin and eye structures, which could be useful in providing an early diagnosis…
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