Fabry disease patients who share the same genetic mutation in the GLA gene may experience different symptoms, a case report study has found. The study, “Clinical Diversity in Patients with Anderson-Fabry Disease with the R301Q Mutation,” was published in Internal Medicine. Fabry disease is a rare…
A study in a Nordic population found no apparent clinical benefit in screening patients with idiopathic small fiber neuropathy or mixed neuropathy for hereditary ATTR amyloidosis and Fabry disease, identifying no definite cases of either disorder. The study, “Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic…
Roughly half of the patients diagnosed with Fabry disease experience white matter lesions, which tend to develop earlier in males and are more prevalent as patients get older, a review study shows. The study, “Development and clinical consequences of white matter lesions in Fabry disease: a systematic review,”…
Fabry disease patients struggle with physical exercise — measured by a cardiopulmonary exercise test — due to an impairment in cardiac function as a direct consequence of Fabry-associated heart disease, a study shows. The study, “Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease,”…
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…
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,…
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