News

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

Newborn screening programs are the best way to diagnose Fabry disease early in infancy — enabling timely enzyme replacement therapy before the disease causes tissue and organ damage — and potentially lead to the diagnosis in other family members, a study suggests. Such a program in western Japan estimated a…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

PRX-102 (pegunigalsidase alfa), Protalix BioTherapeutics’ investigational enzyme replacement therapy, led to clinical improvements in adults with Fabry disease, according to data from two Phase 1/2 trials. The therapy lowered both kidney globotriaosylceramide (Gb3) inclusions and blood levels of Gb3, showing that it reaches affected tissues, and…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar.  William Whitman…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Genetic screenings for people at high risk for Fabry disease — particularly those with kidney disease requiring dialysis — can help physicians diagnose the rare genetic disorder early, according to a recent review study. Such early diagnosis allows patients to start treatment promptly, preventing unnecessary…

Protalix BioTherapeutics and Chiesi Farmaceutici announced the start of a pediatric study plan (iPSP) to test PRX-102 (pegunigalsidase alfa) in children with Fabry disease, in agreement with the U.S. Food and Drug Administration (FDA). Fabry is characterized by the lack of an enzyme called…