Protalix BioTherapeutics and its partner Chiesi Global Rare Diseases have applied to the European Medicines Agency (EMA) for the approval of PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy, to treat adults with Fabry disease. This approval request, in the form of a marketing authorization application, has been validated by the EMA and now…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
Beginning enzyme replacement therapy (ERT) before age 16 is associated with reduced kidney and heart damage — relative to no treatment — in males with classic Fabry disease, according to a small study from the Netherlands. These early findings, concerning 10 years of treatment with Fabrazyme (agalsidase beta),…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Measuring the activity of a certain enzyme whose levels are low or absent in Fabry disease may be a useful newborn screening blood test for its diagnosis, a five-year study in Italy suggests. With the test, Fabry disease, which is more common among men than women, was found…
Fabry disease patients who have had a kidney transplant and are on immunosuppressive therapies may show a weaker response to a COVID-19 vaccine, including the booster, according to a study about two patients in France. While one patient had significant increases in antibody levels against SARS-CoV-2, the virus that…
Idorsia will continue its open-label extension of the Phase 3 MODIFY trial to better determine if lucerastat, the company’s investigational oral therapy for Fabry disease, may be of benefit to patients’ kidneys and the heart. The decision comes despite the therapy having failed to outperform a placebo…
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