Joana Carvalho, PhD,  managing science editor—

PRX-102 (pegunigalsidase alfa), an experimental enzyme replacement therapy (ERT) for Fabry disease, safely led to significant improvements in kidney function and slowed the progression of kidney disease in men and women previously treated with Replagal (agalsidase alfa). These are the final results from the open-label Phase 3 BRIDGE…

Using a new harmless version of an adeno-associated virus (AAV), scientists successfully delivered a human version of alpha-galactosidase A — the faulty enzyme in people with Fabry disease — to different tissues and organs, including the brain, of a mouse model of the disease. According to the researchers, these…

Physicians should consider Fabry disease when trying to determine the cause of recurrent episodes of fever in a patient that have no known or readily identifiable source, a case report highlighted. The study, “Recurrent fever of unknown origin: An overlooked symptom of Fabry disease,” was published in…

In times of emergency, telemedicine, home-based treatments, and lab tests should be adopted whenever possible to help people with Fabry disease manage their condition while ensuring their safety, an observational study in Italy suggests. The study, which focused on analyzing the clinical outcomes of Fabry patients during the…

Investigators have identified a new mutation in the GLA gene that caused Fabry disease in a 25-year-old man with end-stage kidney failure. His case was described in the study “Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel…

A case study of two cousins with Fabry disease who started producing high levels of neutralizing antibodies after enzyme replacement therapy (ERT) highlight the need for alternative therapies. The study, “Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres,” was…

A single administration of AMT-190, uniQure’s investigational gene therapy for Fabry disease, significantly increases the activity of  alpha-galactosidase A — the faulty enzyme in Fabry patients — in mice and primate models of disease. Preclinical findings were announced in the presentation “Development of…

Treatment with PRX-102 (pegunigalsidase alfa), Protalix BioTherapeutics’ investigational enzyme replacement therapy (ERT) for Fabry disease, led to significant improvements in kidney function in patients who had been previously treated with Replagal, according to top-line data from the BRIDGE Phase 3 trial. PRX-102 is a man-made…

Protalix BioTherapeutics and its partner Chiesi Global Rare Diseases, have submitted an application to the U.S. Food and Drug Administration (FDA) requesting the approval of PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT), to treat adults with Fabry disease The request was submitted…

High-risk screenings for Fabry disease among individuals with chronic kidney disease (CKD) should be based on biomarkers other than globotriaosylceramide (Gb3) to lower the frequency of false positives, a study has found. Alternatively, according to the researchers, the normal range of urinary Gb3 values for patients…