When Jack Johnson helped found the Fabry Support & Information Group (FSIG) 30 years ago, he was driven by his own experience living with the rare genetic disorder — and a determination to ensure no other family had to navigate Fabry disease alone. Now, as the organization marks…

People with Fabry disease and their doctors often view important aspects of diagnosis and treatment differently, and these perception gaps could contribute to suboptimal disease management, according to a survey from South Korea. While both groups agreed on the importance of an accurate diagnosis and genetic counseling for…

uniQure‘s investigational gene therapy AMT-191 markedly boosted the levels of the enzyme whose deficiency causes Fabry disease in all patients dosed thus far in a small clinical trial. Further, each of the 11 adults with Fabry taking part in the Phase 1/2 study (NCT06270316) was able…

People with Fabry disease who develop antidrug antibodies (ADAs) against enzyme replacement therapy (ERT) tend to show higher levels of disease-related biomarkers and experience more infusion-related reactions than those without these antibodies. The review of 24 studies found the link between ADAs and kidney and heart outcomes was…

I live six hours away from Cajun country, where my family line is rooted. I miss the lush greens of southern Louisiana, the comfort food, and most of all, the people I love so dearly. On July 3, my daughter and I were driving there when I saw a message…

Direct genetic testing in Spanish adults at high risk for Fabry disease uncovered 10 previously unreported mutations in the GLA gene, a new study has found. “These findings highlight the value of direct genetic analysis in high-risk populations for identifying both known and previously unreported GLA variants,” noted researchers,…