News

Avrobio’s ongoing FAB-GT Phase 2 clinical trial, testing its experimental gene therapy AVR-RD-01 in adolescents and adults with Fabry disease, is now open to female patients. The protocol amendment, implemented in August, allows girls and women with Fabry to participate in the trial, even though their symptoms…

Juvenile idiopathic arthritis or JIA, the most frequent chronic inflammatory arthritis disorder affecting children, may co-occur with Fabry disease, according to a study of children with JIA in Brazil. While early Fabry symptoms may resemble those of JIA — and may lead to misdiagnoses — in this study,…

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…

Protalix BioTherapeutics has requested a type A meeting with the U.S. Food and Drug Administration (FDA) to discuss a path forward for approval of PRX-102 (pegunigalsidase alfa), an investigational therapy for Fabry disease that was rejected by the regulatory agency earlier this year. The meeting is expected…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

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…