News

A single administration of AMT-190, uniQure’s investigational gene therapy for Fabry disease, significantly increases the activity of  alpha-galactosidase A — the faulty enzyme in Fabry patients — in mice and primate models of disease. Preclinical findings were announced in the presentation “Development of…

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…

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 &…

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.

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…

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…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Fabry disease patients may naturally have higher levels of neutralizing antibodies against Fabrazyme (agalsidase beta) than against Protalix BioTherapeutics‘ investigational PRX-102 (pegunigalsidase alfa), BALANCE Phase 3 trial data suggest. As antibodies can limit the effectiveness of enzyme replacement therapies, developing less of them suggests that…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.