News

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…

A common GLA mutation is highly associated with the development of Fabry disease in both men and women, and even women with no typical disease symptoms show signs of heart damage, a Finish study suggests. These findings highlight the importance of  cardiac evaluations in women carrying GLA mutations,…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Korean investigators have discovered a new mutation in the GLA gene — located on the X chromosome — that is likely associated both with Fabry disease and heart disease, according to a case report study. Titled “Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough…

PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT) for Fabry disease, is closer to accelerated approval after a successful pre-biologics license application (BLA) meeting with the U.S. Food and Drug Administration (FDA), according to a press release. PRX-102’s developers, Protalix BioTherapeutics and Chiesi Farmaceutici, met with…