News

The U.S. Food and Drug Administration (FDA) has rejected Protalix BioTherapeutics and Chiesi Global Rare Diseases’ request for accelerated approval of PRX-102 (pegunigalsidase alfa) as the first plant-based, every-other-week enzyme replacement therapy (ERT) for adults with Fabry disease. This decision was not related to any concerns with the safety or effectiveness of PRX-102 shown…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

A Phase 1/2 clinical trial evaluating the investigational gene therapy 4D-310, developed by 4D Molecular Therapeutics (4DMT) for people with Fabry disease, has dosed its first patient. The trial (NCT04519749) is currently enrolling men with Fabry at four sites across the U.S. These study locations are the Children’s…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

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…

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…

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…