News

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…

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 —…

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…

Doctors identified a previously unreported mutation in the GLA gene as the cause of Fabry disease in a woman whose disease mainly affected the heart. The woman received an implantable cardioverter-defibrillator to help protect against dangerous heart rhythm oscillations and later began enzyme replacement therapy with Fabrazyme (agalsidase beta). She…

Careful examination of the heart’s structure raised suspicion of late-onset Fabry disease in a 72-year-old man whose heart abnormalities could not be fully explained by his existing health conditions, a case report describes. The suspected diagnosis emerged only after the man died and an autopsy revealed a severely enlarged…

Treatment with sodium-glucose cotransporter-2 inhibitors (SGLT2i), a medication used for type 2 diabetes, may reduce the risk of death and heart attacks in people with Fabry disease, according to a new analysis. “In this real-world cohort of patients with [Fabry disease], exposure to [SGLT2i] was associated with a lower…

People with Fabry disease appear to have an increased capacity to generate thrombin — a key protein involved in blood clot formation — and higher levels of several other clotting-related factors, potentially putting them at a greater risk of developing a blood clot in a blood vessel or the…

Switching from the enzyme replacement therapy (ERT) agalsidase alfa to Fabrazyme (agalsidase beta) was associated with reduced pain and lower levels of a disease biomarker in a boy with classic Fabry disease, according to a case report from Japan. The boy was diagnosed through newborn screening and…

Four family members with Fabry disease carrying the same GLA mutation showed markedly different neurological manifestations, ranging from recurrent strokes to nerve pain and hearing loss, according to a case series. Brain small-vessel disease was detected in three evaluated adults, while the youngest family member, an 18-year-old girl, had…