News

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

The intracranial volume (ICV) in patients with Fabry disease is significantly lower than in healthy individuals, indicating an early onset of neurodevelopmental abnormality, according to researchers. Their study, “Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?” was published in the journal Frontiers in Neurology. Fabry…

Protalix BioTherapeutics‘ investigational therapy PRX-102 (pegunigalsidase alfa) improved kidney function in Fabry disease patients, according to preliminary Phase 3 clinical results. The company announced that additional positive preliminary data of its BRIDGE clinical trial will be presented during the Canadian Symposium on Lysosomal Diseases, taking place Oct. 5-6 in Sherbrooke,…

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,”…

Renal insufficiency in Fabry disease patients may lead to cellular events that result in cardiovascular disease, a study shows. The study, “Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy,” was published in the journal Frontiers in Cardiovascular Medicine. Fabry disease patients are unable to produce an…

Inflammation of the heart, known as myocarditis, is found in more than half of patients with Fabry disease cardiomyopathy — a consequence of fat molecule accumulation in the cells of the heart — and is associated with disease severity, a study has found. Myocarditis may also limit the impact…

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…