Investigators have identified a new mutation in the GLA gene that caused Fabry disease in a 25-year-old man with end-stage kidney failure. His case was described in the study “Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel…
Fabry disease is a rare genetic disease characterized by the buildup of a fatty molecule — globotriaosylceramide Gb3 or GL-3 — inside cells, interfering with their function. The accumulation of this molecule can lead to kidney disease, among other problems. The kidneys filter waste…
For my introductory Fabry Disease News column, I’d like to share a little about me and my journey with Fabry disease. Just over 40 years ago, in 1979, Fabry disease was discovered in my family. My mother was diagnosed with an eye exam when she was hospitalized for an unrelated…
Switching from enzyme replacement therapy (ERT) to Galafold (migalastat) is a valid and safe therapeutic option for Fabry disease patients with Galafold-amenable mutations, according to a real-life study from Italy. Notably, the data showed that Galafold resulted in greater and significant improvements in patients’ heart size and kidney function,…
My 12-year-old daughter was diagnosed with Fabry disease in spring 2019. Because she’s relatively new to having Fabry, I thought it’d be interesting to collect her thoughts on life with a rare disease. Me: What were your thoughts upon receiving your Fabry diagnosis?…
A case study of two cousins with Fabry disease who started producing high levels of neutralizing antibodies after enzyme replacement therapy (ERT) highlight the need for alternative therapies. The study, “Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres,” was…
If you have Fabry disease, you should consider joining the Fabry Registry. Among other benefits, the information you can provide may help scientists develop new treatments for the genetic disorder. About the Fabry Registry The Fabry Registry is the largest international patient registry database dedicated to Fabry…
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
A newly developed urine test that measures the levels of different proteins may help doctors to more quickly and accurately monitor the progression of Fabry disease, a study finds. The study, “Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease,” was published in…
A single administration of AMT-190, uniQure’s investigational gene therapy for Fabry disease, significantly increases the activity of alpha-galactosidase A — the faulty enzyme in Fabry patients — in mice and primate models of disease. Preclinical findings were announced in the presentation “Development of…
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