News

Protalix BioTherapeutics and Chiesi Global Rare Diseases have launched an expanded access program (EAP) in the U.S. for PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy…

The American Kidney Fund (AKF) has opened a Fabry disease education and awareness campaign that encourages people with chronic kidney disease (CKD) who don’t know the underlying cause of their disorder to get tested for Fabry. The effort is in partnership with Sanofi Genzyme, and expands on…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

In times of emergency, telemedicine, home-based treatments, and lab tests should be adopted whenever possible to help people with Fabry disease manage their condition while ensuring their safety, an observational study in Italy suggests. The study, which focused on analyzing the clinical outcomes of Fabry patients during the…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

The results from a one-year extension study of the Phase 3 ATTRACT trial demonstrate the long-term safety and effectiveness of Galafold (migalastat) in people with Fabry disease with specific mutations. Importantly, the therapy’s efficacy and safety also were observed…

As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. Baby’s First Test is a program of Expecting Health, an organization focused on pregnancy and newborn health. The…

A single administration of the experimental gene therapy ST-920 in a Fabry disease mouse model safely and effectively increased the levels of the alpha-GalA enzyme — which is lacking in people with the genetic disorder — in…

Note: This story was updated Sept. 9, 2020, to reflect that PRX-102 is licensed to Chiesi for all markets, including the U.S. The U.S. Food and Drug Administration (FDA) has accepted for review an application from Chiesi Global Rare Diseases and Protalix BioTherapeutics that asks for approval of…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…