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…
A specific set of small RNA molecules in the blood can help diagnose Fabry disease and monitor response to therapy, according to recent findings. The study, “A pilot study of circulating microRNAs as potential biomarkers of Fabry disease” was published in the journal Oncotarget. Fabry…
Reduced sweating observed in Fabry patients may be a consequence of nerve cell loss in sweat glands, particularly in women, a study has found. The study, “Quantification of sweat gland innervation in patients with Fabry disease: A case-control study,” was published in the Journal of the…
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…
Newborn screening with enzymatic testing can effectively detect Fabry disease in infants, a four-year study by the public health system in the U.S. state of Missouri suggests. The study, “Incidence of 4 Lysosomal Storage Disorders From 4 Years…
The investigative therapy pegunigalsidase alfa (PRX-102) effectively stabilized kidney function in Fabry disease patients more efficiently than Fabrazyme, according to Phase 3 clinical results. Fabrazyme (agalsidase beta), developed by Sanofi Genzyme, has been used as an enzyme replacement therapy (ERT) in Fabry disease to compensate for the lack…
Amicus Therapeutics announced the beginning of the availability of Galafold (migalastat) to treat Fabry disease in Japan, making this the first oral precision medicine available for patients with an amenable mutation in that country. Fabry disease is caused by mutations in the GLA gene, which lead to a defective…
Kidney injury associated with Fabry disease significantly varies among patients. Family members with unknown kidney disease should consider Fabry disease as a potential diagnosis, according to a case series report. The study, “Variable phenotypic presentations of renal involvement in Fabry disease: a case series,” was published in F1000 Research.
Early therapeutic intervention with enzyme replacement therapies (ERTs), along with a multidisciplinary follow-up, should be initiated at a young age in Fabry patients to promote the best outcomes and prevent disease progression in both adult and pediatric patients. These are the conclusions of the review, “Therapeutic goals…
Idorsia has enrolled the first patient in its MODIFY clinical trial, which will evaluate the potential of investigative oral monotherapy lucerastat as a treatment for adult patients with genetically confirmed Fabry disease. The Phase 3 trial (NCT03425539) will assess the safety and effectiveness of lucerastat in Fabry…
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