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…
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…
In late-onset Fabry disease, the accumulation of a fatty molecule in cells called Gb3 — and potential cellular damage — is present before typical signs of the disease, according to a small Taiwanese study. These findings suggest that the early detection of Gb3 (globotriaosylceramide) accumulation through an accurate test…
Electrical, structural, and functional changes in the heart, along with abnormal accumulation of fat molecules, may predict the development of cardiac conditions in Fabry disease patients, according to researchers. Their study, “Cardiac Phenotype of Prehypertrophic Fabry Disease,” was published in the journal Circulation: Cardiovascular Imaging. In…
Transplanting the liver may not be an effective strategy to restore α-galactosidase A (GLA) levels — the deficient enzyme in Fabry disease patients — according to a case report. The report, “Persistent Alpha-galactosidase A Deficiency following Simultaneous Liver-Kidney Transplantation in a Patient with Fabry Disease,” was published…
Galafold (migalastat) significantly reduces diarrhea in patients with Fabry disease and “amenable” mutations — that can respond to Galafold treatment — according to a recent analysis of the FACETS study’s results. This result supports previous evidence from the same trial showing that Galafold improves gastrointestinal symptoms, including diarrhea,…
Gastrointestinal specialists should add Fabry disease to their list of possible causes of non-specific gastrointestinal symptoms, according to a review published in the journal Digestive and Liver Disease. The authors suggest that improved diagnostic tools for these symptoms may help the diagnosis of Fabry disease. The recent study, “…
One of the molecules that accumulates in Fabry disease has been found to be a useful diagnostic biomarker of classic and late-onset disease, according to a study with Japanese patients. An analysis of the molecule, globotriaosylsphingosine (lyso-Gb3), was also able to identify unrecognized mutations in Fabry disease. The study, “…
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