News

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…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.

A new evaluation tool, the FAbry STabilization indEX (Fastex), can help detect disease progression in individuals with Fabry disease, and could become useful in routine practice and clinical trial assessments. The tool was described in a paper, titled “FAbry STabilization indEX (FASTEX): Clinical evaluation of disease progression in…

Galafold (migalastat) is an effective treatment for certain Japanese people with Fabry disease, with no apparent differences in response to treatment due to race, a new analysis of data from the ATTRACT study suggests. The findings were published in the Orphanet Journal of Rare Diseases in…

Detectable differences in blood vessel architecture in the eyes of people with Fabry disease could prove useful in diagnosing the disease early, a study has found. The study, “Optical Coherence Tomography Angiography Findings in Fabry Disease,” was published in the Journal of Clinical Medicine.  Fabry disease…

High-risk screenings for Fabry disease among individuals with chronic kidney disease (CKD) should be based on biomarkers other than globotriaosylceramide (Gb3) to lower the frequency of false positives, a study has found. Alternatively, according to the researchers, the normal range of urinary Gb3 values for patients…