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…
I have started and stopped and restarted this column so many times that I have lost count. My brain is fuzzy, my mind can’t seem to settle, and my beloved routines are all thrown out the window due to all that is going on in the world these…
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…
Fabry disease is a rare genetic disorder caused by mutations in a gene called GLA. This gene provides cells with the instructions necessary to make the alpha-galactosidase A enzyme. Without this enzyme, fatty substances called sphingolipids cannot be broken down and build up in tissues, leading…
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,…
I’m writing this column on the eve of my daughter’s 13th birthday. We are six days into social distancing in an effort to help stop the spread of the coronavirus. My daughter has been excited about turning 13 since she was 2. She and I have…
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) —…
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