News

One-time administration in mice of a gene therapy candidate known as ST-920 led to substantial increases in the activity of the key Fabry disease enzyme alpha-GalA and marked reductions in the levels of the fatty molecules that accumulate in patients with this disease. A Phase 1/2 clinical trial testing…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Fabry disease shares some manifestations with rheumatic diseases, which has raised concerns of wrongful diagnosis and consequent delayed treatment. Still, patients with this rare genetic disease are unlikely to be systematically overlooked in clinical rheumatology practice, results of a genetic analysis of German patients with early undifferentiated arthritis shows. The…

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…