An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Genetic screenings for people at high risk for Fabry disease — particularly those with kidney disease requiring dialysis — can help physicians diagnose the rare genetic disorder early, according to a recent review study. Such early diagnosis allows patients to start treatment promptly, preventing unnecessary…
Fabry disease is a rare genetic disorder characterized by the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells. Its symptoms, such as muscle weakness, kidney dysfunction, heart disease, Fabry crises, and various skin and eye problems, can be quite…
Protalix BioTherapeutics and Chiesi Farmaceutici announced the start of a pediatric study plan (iPSP) to test PRX-102 (pegunigalsidase alfa) in children with Fabry disease, in agreement with the U.S. Food and Drug Administration (FDA). Fabry is characterized by the lack of an enzyme called…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
New Year’s resolutions. Do you make them? Do you keep them? Are you still going strong? Or are you like the 75 to 80 percent of Americans who quit their resolutions by February? I don’t make resolutions because I believe that change can happen regardless…
Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene. These mutations result in deficient amounts of an enzyme called alpha-galactosidase A being produced that, in turn, causes a type of fat called globotriaosylceramide (Gb3 or GL-3) to accumulate inside cells. An…
Fabry disease is a rare genetic disease that occurs as a result of a mutation in the GLA gene. This leads to a deficiency in the production of an enzyme called alpha-galactosidase A, due to the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in…
A new evaluation tool, the FAbry STabilization indEX (Fastex), can help detect disease progression in individuals with Fabry disease, and could become useful in routine practice and clinical trial assessments. The tool was described in a paper, titled “FAbry STabilization indEX (FASTEX): Clinical evaluation of disease progression in…
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