An investigational enzyme replacement therapy (ERT) for Fabry disease that could be given once a month by injection under the skin — rather than through a more time-consuming into-the-vein infusion — is being added to the treatment pipeline of a U.S.-based pharmaceutical company under a deal that could ultimately…

I drizzled hot butter over my large popcorn and topped off my peach iced tea while my friend added toppings to her hot dog before we settled into our reclining seats. After a long week of teaching, we both relished the opportunity to unwind on this particular Friday afternoon with…

A global Phase 3 clinical trial will test whether lucerastat, an experimental oral treatment, can reduce the buildup of fatty substances in the kidneys of people with Fabry disease. These substances can contribute to kidney damage. The study, called FAB-KLEAR (NCT07778667), aims to enroll 16 men with…

A long-term study found that adults and children with Fabry disease receiving enzyme replacement or chaperone therapy generally maintain stable vision and eye structures over a median of 6.5 years. While the nerve fiber layer in the retina — the light-sensitive tissue at the back of the eye —…

I remember first struggling with strenuous activity as a young boy in middle school. Even before then, I wasn’t as active as my siblings and friends. I avoided activities that required a lot of exertion and accepted that I couldn’t keep up. I remember getting tired quickly and overheating easily.

Kidney involvement in Fabry disease can begin early, even before symptoms or marked loss of kidney function develop, a study has found, highlighting the importance of early diagnosis and monitoring. “These findings support kidney surveillance from childhood onward,” researchers wrote in “Clinical and Laboratory Characteristics of Fabry Disease…