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…
Changes in gene expression in the prefrontal cortex, the area of the brain responsible for attention and decision-making, may account for some of the cognitive symptoms and amplified pain perception observed in Fabry disease, a mouse study shows. The study, “Altered Gene Expression in Prefrontal Cortex of a Fabry…
A recent review has summarized the current diagnostic tools and available treatments for Fabry disease, highlighting the challenges and potential new avenues to improve patients’ diagnoses and clinical outcomes. The review, “Diagnosis and Treatment of the Cardiovascular Consequences of Fabry Disease” was published in the QJM: An International…
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…
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