Steve Bryson, PhD,  science writer—

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…

Researchers discovered new mutations in the GLA gene, the underlying cause of Fabry disease, but noted that all of them may be amenable to Galafold (migalastat) chaperone therapy, an approved treatment to slow or prevent organ function decline in Fabry patients, a new study reports. Clinical manifestations of…

Mild to moderate cerebrovascular disease, which occurs when blood flow in the brain is impaired, is a characteristic brain signature in adults with Fabry disease, according to a new study. Nearly half of those examined showed signs of white matter damage, for which impaired kidney function was the sole…

Fabry disease is underdiagnosed across different minority ethnic groups in the U.K., a study suggests. Despite making up about one-fifth of the population of England and Wales, less than 10% of those who received a Fabry diagnosis were ethnic minorities, compared with 90% of the white population. “Further research…

Five years after receiving the experimental Fabry disease gene therapy AVR-RD-01, kidney function in all five participants remains relatively stable, according to the final results of the Canadian FACTs study, which tested the treatment candidate in men with the condition. All five patients had significant and sustained increases in…