The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is…
News
The European Commission has granted orphan drug designation to Avrobio’s investigational gene therapy AVR-RD-01 for the treatment of Fabry disease. The decision, based on a positive opinion from the Committee for Orphan Medicinal Products of the European Medicines Agency, will provide regulatory and financial incentives for…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
Chiesi Global Rare Diseases has launched a campaign called “Rethink Fabry” that seeks to help people with the rare genetic disorder, along with their caregivers and family members, to make informed healthcare decisions. The Italian pharmaceutical’s “disease education program,” currently intended for U.S. residents only, also includes new…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
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…
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