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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…

Scientists have found evidence that a GLA gene variant of unknown pathogenicity — meaning its ability to cause disease was still unknown — can trigger kidney disorders associated with Fabry disease. Their findings were described in the study, “Renal globotriaosylceramide deposits for Fabry…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Kidney biopsies can be instrumental in diagnosing Fabry disease, particularly in females for whom symptoms can vary widely, a new case report contends. The report, “A case of female Fabry disease revealed by renal biopsy,” was published in CEN Case Reports. Fabry disease is caused by mutations in…

Certain cells in patients with Fabry disease seem to age more rapidly than in healthy people, which may explain why patients have a shorter lifespan compared to the general population, a study has found. By measuring “molecular clocks” linked to aging, called telomeres, researchers saw that cells from…

Treatment with PRX-102 (pegunigalsidase alfa) can safely and effectively improve kidney function in Fabry disease patients, according to preliminary data from a Phase 3 clinical trial. One year of treatment with PRX-102 significantly improved the clinical status of all patients with progressing disease and 66.7% of those with…

Even with treatment, people with Fabry disease often experience pain to an extent that it affects their quality of life, a study based on a survey of more than 350 patients reports. Diarrhea was also a commonly reported problem, but more often in male respondents than female. “…

Enrollment has been completed for a Phase 3 clinical trial comparing PRX-102 (pegunigalsidase alfa) with Fabrazyme (agalsidase beta) for the treatment of Fabry disease. The BALANCE trial (NCT02795676) estimated enrolling 78 Fabry disease patients with impaired renal function who had been previously treated with Sanofi Genzyme’s…