Women With Fabry Disease

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…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Fabry disease is a rare disease characterized by the buildup of a fatty molecule (globotriaosylceramide Gb3 or GL-3) inside cells. This accumulation can lead to complications that include kidney disease. Normally, the kidneys filter wastes from the blood. Gb3 buildup can prevent this clearance, allowing waste…

New clinical trial data support the effectiveness of AVR-RD-01, Avrobio‘s investigational gene therapy for Fabry disease. The data also indicate that Avrobio’s proprietary gene therapy platform plato might be more effective than conventional platforms. Data were shared at the American Society of Gene &…

Genetic mutations that result in the buildup of fatty molecules called globotriaosylceramide (Gb3 or Gl-3) are the cause of Fabry disease. This accumulation damages cells and leads to problems in various tissues, including the eyes. Many of the symptoms of Fabry disease are similar to those of other…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

It is common for Fabry disease patients to complain about being heat intolerant. Because of this, summers can be challenging. One study reported by Fabry Disease News noted that nerve cell loss in sweat glands may contribute to sweating issues in Fabry patients.

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…

There is currently no cure for Fabry disease, a rare genetic condition characterized by the buildup of a molecule called globotriaosylceramide (Gb3 or Gl-3) within cells. Researchers are working to find potential new treatments for the disease. One way that people with Fabry disease can help in this…

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…