Diogo Pinto,  —

AVROBIO, a biotechnology company developing single-dose gene therapies for rare diseases, announced positive preliminary data for its Phase 1/2 clinical trial testing AVR-RD-01 gene therapy in patients with Fabry disease. AVR-RD-01 has shown to be safe and effective in delivering a healthy GLA gene that encodes a functional…

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…

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…

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…

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.