News

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…

The U.S. Food and Drug Administration (FDA) has extended the review date by three months — to spring 2021 — for a biologics license application (BLA) seeking accelerated approval of PRX-102 (pegunigalsidase alfa) to treat adults with Fabry disease. Protalix BioTherapeutics and Chiesi Global Rare Diseases, who are…

The annual EURORDIS Photo Award contest is inviting people worldwide to visually express what life is like with a rare disease, while raising awareness through their work of these disorders. Submissions for next year’s awards are open until Jan. 31. The competition is organized by France-based EURODIS, an alliance…

Using a new harmless version of an adeno-associated virus (AAV), scientists successfully delivered a human version of alpha-galactosidase A — the faulty enzyme in people with Fabry disease — to different tissues and organs, including the brain, of a mouse model of the disease. According to the researchers, these…

More than half of male patients with classic Fabry disease develop neutralizing antibodies against enzyme replacement therapy (ERT), affecting its effectiveness, according to a study from Japan. This development appeared to be associated significantly with the presence of nonsense mutations in GLA — the mutated gene in Fabry disease…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…