News

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

A charitable program can help people with lysosomal storage disorders, such as Fabry disease, who live in underserved communities worldwide gain access to essential treatments, a study reports. The study, “A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide,” was published in…

Fabry disease patients treated with Galafold (migalastat) had stable kidney (renal) function for up to eight and a half years — regardless of treatment status, sex, or disease characteristics — an analysis of clinical trials found. Notably, the treatment — designed only for people with certain mutations in…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

ThinkGenetic is set to release a version of its online interactive tool to help in the diagnosis of Fabry disease as part of upcoming pilot initiatives by Takeda Pharmaceutical. The initial pilot programs, to be released this year, will also include versions of the diagnostic tool, called…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

A first patient has been treated with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy for Fabry disease that is under review for approval, through an expanded access program (EAP) in the United States. “The initiation of treatment in the first patient enrolled in our EAP is an important milestone for the Fabry…

PRX-102 (pegunigalsidase alfa), an experimental enzyme replacement therapy (ERT) for Fabry disease, safely led to significant improvements in kidney function and slowed the progression of kidney disease in men and women previously treated with Replagal (agalsidase alfa). These are the final results from the open-label Phase 3 BRIDGE…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Using only an age-dependent threshold of estimated glomerular filtration rate (eGFR) — a marker of kidney function — indicating mild-to-moderate kidney disease is insufficient to effectively screen for undiagnosed Fabry disease patients among the general population, a study shows. The findings suggest that appropriate screening likely wil require evidence…