The European Commission has expanded the use of Galafold (migalastat) to children starting at age 12 and weighing at least 45 kilograms (99 pounds), with confirmed Fabry disease and a genetic mutation known to be sensitive to treatment. Galafold, developed by Amicus Therapeutics, is approved in over 40 countries.
In people with Fabry disease, starting enzyme replacement therapy (ERT) before the onset of chronic kidney disease — known as CKD — is linked with better outcomes, according to a Spanish retrospective study. Indeed, patients with CKD at the start of ERT had an increase of three…
The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…
AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…
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,…
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