Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
An experimental genome-editing therapy safely and effectively increased levels of alpha-galactosidase A (Gal A) — which is lacking in people with Fabry disease — in a mouse model of the disease, a study has shown. By only changing the genome of about 10% of cells in the liver —…
Family genetic testing can help to diagnose people with rare genetic conditions like Fabry disease, but there still are several barriers to implementing family genetic testing worldwide, according to an international panel of researchers who are using their experiences to share strategies for improving such testing. The review, “…
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…
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