News

Chiesi Global Rare Diseases and Protalix Biotherapeutics are asking a committee of the European Medicines Agency (EMA) to reconsider its recent rejection of a monthly dosing plan for their approved treatment, Elfabrio (pegunigalsidase alfa), for Fabry disease. The proposed regimen would provide patients with a more…

Enzyme replacement therapy (ERT) preserved or improved heart function in two men with Fabry disease who had already experienced kidney failure and were undergoing renal replacement (dialysis or kidney transplant), a new case study reports. The study provides evidence that ERT, the standard treatment for Fabry disease,…

The European Medicines Agency (EMA) has issued a negative opinion on a request to approve a less frequent and higher-dose regimen of Elfabrio (pegunigalsidase alfa), an approved enzyme replacement therapy (ERT) for adults with Fabry disease. The request, submitted by Elfabrio’s developers, Chiesi Global Rare Diseases and Protalix…

Noninvasive in vivo confocal microscopy (IVCM) detected signs of nerve damage in the cornea — the eye’s transparent outer layer — in people with Fabry disease, who also had higher levels of inflammatory immune cells in the cornea than healthy individuals, a study found. “IVCM provides parameters that reliably…

Long-term use of the approved oral therapy Galafold (migalastat) can help stabilize heart and kidney function in women and girls with Fabry disease across different disease severity levels, a new study from U.S. and European researchers reports. Nearly three-quarters of the female participants in the two clinical trials…

Inflammation, believed to be a secondary or late complication, may instead be an early and active driver of Fabry disease, according to data from a small study in Spain. Researchers found ongoing immune activation and signs of inflammation in all patients, even in those with little buildup of the…

Enzyme replacement therapy (ERT) may help limit damage to blood vessels in the kidneys of people with Fabry disease, a new study reports. Specifically, the study found that people with Fabry who had been on ERT for longer had higher levels of VEGF-165b. This molecule is known to…

High-sensitivity blood tests to measure troponin — a biomarker of heart cell damage — can be used to rule out significant cardiomyopathy, a heart condition, in people with Fabry disease, according to a recent report. In clinical settings, this could help physicians promptly identify patients in need of more…

Treatment with the experimental gene therapy AMT-191 led to increases in levels of the enzyme whose deficit causes Fabry disease for four patients in an early clinical trial. As a result, enzyme replacement therapy (ERT) was discontinued for all patients. AMT-191 is being developed by Uniqure,…

People with Fabry disease spend an average of six hours on activities related to a single treatment with an enzyme replacement therapy (ERT), including on travel, waiting, infusions, and other tasks, an observational study suggests. About 1 in 5 patients and half of caregivers said they took time…