News

Almost two years after dosing its first participant, a Phase 1/2 clinical trial testing the gene therapy candidate FLT190 for Fabry disease has treated its second patient. The trial, dubbed MARVEL-1 (NCT04040049), originally had been slated for completion this past March, but had been significantly impacted…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

Wes Burian had a dream job as an animated film surfacing supervisor, bringing to life lovable characters like Po from “Kung Fu Panda.” But Burian, now 48, has Fabry disease, and its progression — increasing exhaustion and the beginnings of cognitive impairment he calls Fabry fog — ultimately…

A new infusion protocol that gradually reduces the amount of time needed for the delivery of the Fabry disease therapy Fabrazyme (algasidase beta) is safe and well-tolerated, a study reports. The study, “Stepwise shortening of agalsidase beta infusion duration in Fabry disease: Clinical experience with infusion…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

One year of treatment with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT), was at least as effective as Fabrazyme (agalsidase beta) at preventing kidney function decline in adults with Fabry disease, interim data from the BALANCE Phase 3 clinical trial show. These findings add to the growing body…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000 in grants, totaling…

Fabrazyme (agalsidase beta) demonstrated an acceptable safety profile and resulted in sustained reductions in globotriaosylceramide (GL-3) levels over seven years among patients with Fabry disease, a large real-world study from in Japan found.  The study, “…

Enzyme replacement therapy (ERT) may not effectively manage all aspects of Fabry disease in all patients, particularly when started at more advanced ages, a new study indicates. The findings highlight the need to start treatment early, its researchers said. The study, “Variable clinical features of patients with…