Steve Bryson, PhD,  science writer—

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…

Women severely affected by Fabry disease and treated with enzyme replacement therapy (ERT) and untreated women with less severe symptoms showed broadly stable disease course over five years, a study in Germany found. Treatment decisions were primarily based on the European guidelines for females with Fabry, which recommend…

Long-term enzyme replacement therapy (ERT) normalizes markers of inflammation and oxidative stress in adults with Fabry disease, a study found. “These findings lead us to believe that long-term ERT can improve the redox status and protect these individuals against oxidative … stress, as well as the inflammatory process,”…

Almost 1% of adults in China with an unexplained thickened wall of the heart’s main pumping chamber, called left ventricular hypertrophy (LVH), were diagnosed with Fabry disease, a study involving nearly 1,000 patients shows. “Our data advocate for routine screening for [Fabry] in all adult LVH patients,” the researchers wrote.