Patricia Inácio, PhD,  science writer—

Protalix BioTherapeutics announced it has completed enrollment of its Phase 3 trial evaluating PRX-102 in Fabry disease patients previously treated with Shire’s Replagal (agalsidase alfa). The BRIDGE trial (NCT03018730) is an open-label switch-over study that will assess the safety and efficacy of PRX-102 in 22 patients with Fabry disease treated with Replagal for…

A case study detailing a younger man admitted to a hospital for a stroke — later attributed to Fabry disease — highlights the importance of family history in diagnosing diseases, especially rare diseases like Fabry, that have a wide range of clinical manifestations. The case report, “Fabry Disease Diagnosis…

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…

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…

An enzyme structurally similar to alpha-galactosidase A (GLA), present in a close relative of the tobacco plant, was able to rescue Fabry disease patients’ cells. These findings suggest that plant alpha-galactosidases can be a potential new source for enzyme replacement therapy in Fabry disease. The study “Nicotiana benthamiana α-galactosidase A1.1 can…

Galafold (migalastat) capsules of 123 mg were approved in Japan to treat Fabry disease patients, ages 16 and older, with mutations amenable to the treatment, Amicus Therapeutics recently announced. This move by Japan’s Ministry of Health, Labour and Welfare makes Galafold, developed by Amicus, the first and only oral precision medicine…

Measuring left heart chamber size and functioning could help doctors do a better job of tracking the progression of Fabry disease in people who also have a heart muscle disorder, a study reports. The research, “Comparison of left atrial size and function in hypertrophic cardiomyopathy and in Fabry disease…

Amicus Therapeutics recently submitted a new drug application (NDA) to the U.S. Food and Drug Administration (FDA) for its investigational oral medicine migalastat for treatment of patients 16 years and older with Fabry disease who have so-called “amenable” mutations. The NDA seeks migalastat’s approval in the U.S. as an alternative to intravenous enzyme…