News

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…

Looking at blood vessels in the eye in people with Fabry disease may give clinicians new insights into problems with blood vessel regulation in the body — and help explain the increased risk of stroke and other complications in Fabry patients. That’s according to a new study, led by…

Family planning is the main event in a woman’s life that’s most affected by Fabry disease, while passing the disease onto her children was the biggest concern, according to a survey of patients and caregivers in Japan. Most respondents also felt the condition affected their mental health. “This study…

Renal cell carcinoma, a common type of kidney cancer, is diagnosed more frequently in people with Fabry disease than in the general population, suggesting a need to consider routine cancer screening as part of their care plan, according to a study from the U.K. and the Netherlands. “Fabry disease…