A rare case of end-stage kidney disease was discovered in a young boy with Fabry disease, a case study reported. In such cases of unexplained kidney failure in children, a detailed family history should be taken, and Fabry considered a possible cause, the researchers recommended. The case study, “…

Enzyme replacement therapy (ERT) may not effectively manage all aspects of Fabry disease in all patients, particularly when started at more advanced ages, a new study indicates. The findings highlight the need to start treatment early, its researchers said. The study, “Variable clinical features of patients with…

Replagal is a treatment for Fabry disease patients ages 7 and older. Shire (now owned by Takeda) developed it. Although in use in many countries, including those of the European Union, the U.S. Food and Drug Administration (FDA) has not approved Replagal. Following are answers to some frequently…

One year of treatment with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT), safely and effectively slowed kidney disease progression in adults with Fabry disease who were previously treated with Replagal (agalsidase alpha), according to final results from the Phase 3 BRIDGE clinical trial. Data also…

Enzyme replacement therapy (ERT), which provides the specific enzymes missing in Fabry patients, can help to ease or even stop your symptoms if you have this disease. However, it is a lifelong treatment, with the enzyme given continuously over time. Here is an overview of what to expect if…

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…

More than half of male patients with classic Fabry disease develop neutralizing antibodies against enzyme replacement therapy (ERT), affecting its effectiveness, according to a study from Japan. This development appeared to be associated significantly with the presence of nonsense mutations in GLA — the mutated gene in Fabry disease…

There currently is no cure for Fabry disease, but there are treatments available to help manage the symptoms of the disease. Two, Fabrazyme and Replagal, are very similar forms of treatment called enzyme replacement therapy (ERT). Sanofi Genzyme developed Fabrazyme; Shire, now owned by …

Switching from enzyme replacement therapy (ERT) to Galafold (migalastat) is a valid and safe therapeutic option for Fabry disease patients with Galafold-amenable mutations, according to a real-life study from Italy. Notably, the data showed that Galafold resulted in greater and significant improvements in patients’ heart size and kidney function,…

Fabry disease is a rare genetic disorder that is caused by mutations in the GLA gene. The body uses the instructions that this gene provides to make an enzyme (alpha-galactosidase A) that breaks down fatty substances called globotriaosylceramide (Gb3 or GL-3). Mutations in GLA mean that the enzyme cannot…