News

The U.S. Food and Drug Administration (FDA) has designated FLT190, an investigational gene therapy for Fabry disease,  an orphan drug to support and speed its development and possible review, Freeline Therapeutics, its developer, announced.

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

A mutation called A143T in the alpha-galactosidase A (GLA) gene is likely a cause of type 2 Fabry disease that manifests predominantly as heart problems, a study suggests. The study, “Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene,” was published in the journal…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship is meant to help bring down barriers to genetic diagnoses and counseling for lysosomal storage diseases…

One-year treatment with Protalix BioTherapeutics‘ investigational enzyme replacement therapy PRX-102 (pegunigalsidase alfa) is safe, well-tolerated and appears to more effectively slow kidney disease progression in Fabry disease patients previously treated with Replagal (agalsidase alpha), results from a Phase 3 clinical trial suggest. Patients also experienced…

In response to the COVID-19 pandemic, Avrobio has temporarily paused enrollment and dosing of new patients in Phase 1 and 2 trials testing its investigational gene therapy AVR-RD-01 for the treatment of Fabry disease. However, identification of eligible patients will continue in Canada, Australia, and the U.S.

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…