News

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

The U.S. Food and Drug Administration (FDA) has approved Avrobio’s clinical program for AVR-RD-01 as a gene therapy candidate for the treatment of Fabry disease. Supported by the FDA’s decision, AvroBio will expand patient recruitment for its Phase 2 FAB-201 clinical trial (NCT03454893) to include patients across…

Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.

Patients with mild Fabry disease do not have a higher prevalence or severity of obstructive sleep apnea when compared with the general population, a study suggests. However, these patients experience more daytime sleepiness and more airflow blockages during sleep, and any of these problems…

Male sex, history of stroke, and intelligence quotient (IQ) are associated with an increased risk of objective cognitive impairment in Fabry disease patients. Depressive symptoms, on the other hand, are related to increased subjective cognitive complaints, a study found. The study, “Predictors of objective cognitive impairment and subjective…

Although most women with Fabry disease have mild but typical manifestations, many are not prescribed enough treatment, including enzyme replacement therapy (ERT), according to a Spanish study. The study, “Clinical profile of women diagnosed with…

Amicus Therapeutics‘ Galafold (migalastat) provides clinical benefit to patients carrying amenable Fabry disease mutations, regardless of disease severity, a Phase 3 trial shows. The findings of the study, “Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry…

Two of the world’s top experts in Fabry disease, geneticists Dominique Germain of France and Gheona Altarescu of Israel, say the number of people born with the disorder may be significantly more than once believed. Both made presentations this month at the 2nd International Congress on Advanced Treatments…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

Galafold (migalastat) increases the activity of alpha-galactosidase A, stabilizes serum biomarkers, and improves heart function in patients with amenable Fabry disease mutations, according to clinical results. The study, “Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year,” was…