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,…
Sitting by the stone hearth at La Madeleine restaurant, two friends and I vulnerably shared our thoughts over soup and salad. The three of us savor life updates, laughter, and counsel. We have many things in common: We are committed Christian women, each with four sons and a daughter. We…
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…
Chronic lower extremity edema is common among people with Fabry disease. This type of swelling occurs because of fluid buildup and may range from mild to pitting — when the swollen skin is pressed and an indentation remains. Before I began receiving intravenous enzyme replacement therapy (ERT)…
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…
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