News

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…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

The gene therapy candidate FLT190 — designed to increase blood levels of the enzyme alpha-GAL A, which is affected in Fabry disease — has been granted orphan drug designation by the European Commission,…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

Newborn screening programs are the best way to diagnose Fabry disease early in infancy — enabling timely enzyme replacement therapy before the disease causes tissue and organ damage — and potentially lead to the diagnosis in other family members, a study suggests. Such a program in western Japan estimated a…