Activities ranging from sharing educational posters to “breaking a sweat” are underway to mark Fabry Disease Awareness Month, set aside each April to call attention to this rare genetic disorder. Awareness and education are crucial to increasing the recognition, diagnosis, understanding, and management of Fabry disease, estimated to affect about…
As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking. But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…
Long-term treatment with Fabrazyme (agalsidase beta), an enzyme replacement therapy for people with Fabry disease, slows the progression of kidney disease and significantly delays arriving at outcomes that include heart or kidney failure, results from clinical and real-world studies show. Findings from this work — a Phase 4 clinical trial…
I never imagined my first episode of irregular heartbeats, or arrhythmias, in the late 1970s would lead to getting a heart transplant decades later. When I had my first episode, I didn’t know I had Fabry disease. I also didn’t know that as a male with classic Fabry…
NanoGLA — a potentially more effective version of enzyme replacement therapy that delivers the missing enzyme in Fabry disease through tiny fatty vesicles — has been designated an orphan drug by the European Commission. The decision was based on a positive recommendation by the Committee for Orphan Medicinal Products, a branch of…
Fabry disease is a progressive, rare, genetic disorder that can lead to a number of health issues that affect a person’s everyday life. Following are some ways that family members can assist someone living with Fabry disease. About Fabry disease Fabry disease results from the abnormal buildup of a…
A once-a-month regimen of the investigational enzyme replacement therapy (ERT) PRX-102 (pegunigalsidase alfa) is safe and effective at maintaining disease stability in adults with Fabry disease, top-line data from the BRIGHT Phase 3 trial show. All were previously being treated twice a month with a commercially available ERT. “Patients…
Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…
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…
Freeline Therapeutics has developed a more robust test to detect the presence of neutralizing antibodies that affect the effectiveness of enzyme replacement therapy (ERT) or gene therapy in people with Fabry disease. The new test fulfills an unmet need for a standard, reliable positive sample (used as a…
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