News

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…

Treatment with Fabrazyme (agalsidase beta) for Fabry disease was safe and tolerated well over about a year, led to reductions in disease-related biomarkers, and eased symptoms in most patients, according to results of a post-marketing surveillance trial in China. An approved enzyme replacement therapy (ERT) for Fabry disease,…

The main part of a Phase 2 trial testing Acelink Therapeutics‘ AL01211 in men with Fabry disease is now complete, and its developer is reporting that the oral treatment candidate showed a favorable safety profile and led to “robust” reductions in disease biomarkers. Given these positive data, Acelink said…

Analyses of kidney cells collected from urine samples could offer new ways of diagnosing Fabry disease and monitoring responses to treatment, a study showed. Human urine-derived renal epithelial cells (hURECs) collected from a man with Fabry showed signs of kidney damage similar to the disease hallmarks that are seen…

Fabry disease takes a significant toll on the hearts of both male and female patients in Finland, often leading to cardiomyopathy, a serious heart condition, according to a recent study. This condition, which weakens the heart muscle, increases the risk of heart failure and stroke. Researchers also found a…

A new mutation in the GLA gene was identified as the cause of Fabry disease in two people who turned out to be members of the same family in Spain, a discovery that allowed researchers to analyze the family tree and track how the disease was inherited. They found that…