News

Long-term dosing with lucerastat, an experimental substrate reduction treatment from Idorsia, may slow the loss of kidney function in adults with Fabry disease, perhaps by reducing the buildup of toxic fatty molecules in the body’s cells, a global clinical trial has found. The oral therapy — given…

Markers of disease-related tissue damage in the brains of Fabry disease patients treated with Galafold (migalastat) tend to remain stable over time, a study found. Fabry patients with high blood pressure may be more likely to have damage in the brain, according…

Despite a delayed start until adulthood, enzyme replacement therapy (ERT) was associated with long-term cardiac stability in a man with Fabry disease who had shown symptoms since early childhood, a case study from Brazil shows. Because ERT was initiated before any signs of heart involvement appeared, the man…

Nearly one in five adults with Fabry disease experienced a stroke over roughly a decade of follow-up, with risk shaped by genetic factors, kidney function, and coexisting autoimmune disease, a large U.K. study found. Preserved kidney function and carrying the disease-causing N215S mutation — which is often linked to…

Health Canada has approved the enzyme replacement therapy Elfabrio (pegunigalsidase alfa) to treat adults with Fabry disease. “With Health Canada’s approval of Elfabrio, we’re proud to have a new treatment option available to Canadians living with Fabry disease,” John Hess, senior vice president for the Americas at…

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…

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…