Young adults with Fabry disease in Canada are at a significantly higher risk of experiencing a first-time stroke or transient ischemic attack (temporary blockages sometimes referred to as “mini-strokes”) than the general population, a new study reveals. Despite this elevated risk, very few Fabry patients who experienced a first…
A one-time infusion of gene therapy ST-920 (isaralgagene civaparvovec) improved kidney function and stabilized heart function in adults with Fabry disease for up to two years after treatment, according to new data from a Phase 1/2 clinical trial. Kidney functional improvements in the…
Noninvasive echocardiogram imaging may serve as an early marker for left ventricular hypertrophy (LVH), a disease of the left heart muscle, in adults with Fabry disease, a study suggests. Imaging measurements could reliably distinguish Fabry patients among individuals with LVH, with Fabry men, in particular, showing markedly worse…
In what researchers say is the first reported case of its kind, a woman in China in her 60s was diagnosed with two co-occurring rare conditions: Fabry disease and myelodysplastic syndrome, known as MDS, a disorder in which a person’s bone marrow doesn’t make enough healthy blood cells. The…
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,…
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…
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…
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…
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…
Up to 20 years of treatment with agalsidase alfa slowed declines in kidney and heart function, and extended survival, among people with Fabry disease, according to the findings of a global real-world study. The therapy’s long-term use was found to delay mortality in these patients…
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