Measurements of subtle eye changes in people with Fabry disease may offer a noninvasive way to support the early diagnosis and long-term monitoring of eye involvement in the rare genetic disorder, a study showed. Researchers found that pupils in people with Fabry recovered more slowly after exposure to light,…
Discussion
Standard newborn screening tests for Fabry disease regularly miss female infants, leading to delays in their diagnosis and treatment compared with males, a new study reveals. Because current screening relies on measuring enzyme activity, the test is generally less reliable for girls, who…
Discussion
A new guidebook aims to support young adults living with Fabry disease. The Fabry International Network (FIN) developed the guide in collaboration with a coalition of young adults with Fabry disease from around the world. “This guidebook was built with young adults, not simply for them,” Anna…
Discussion
Oral treatment with Galafold (migalastat) helped keep kidney and heart function largely stable over years of follow-up in adults with Fabry disease, according to a real-world U.K. study. The therapy also significantly reduced blood levels of lyso-Gb3, a disease biomarker, in both people starting treatment for the first…
Discussion
A single dose of an RNA-based gene therapy for Fabry disease produced long-lasting levels of the missing key enzyme and reduced the toxic buildup of fatty molecules linked to the disease, according to new preclinical data from Addition Therapeutics. The findings were presented in a poster at the…
Discussion
Receiving a medical diagnosis can change a person’s life in ways that go far beyond the physical symptoms of a disease. Whether the diagnosis is common or rare, chronic or progressive, the emotional and psychological impact can be profound. For many people, the journey after diagnosis becomes not only a…
Discussion
There is a story that brings 5 million visitors each year to a hamlet nestled in the foothills of the majestic Pyrenees. Lourdes, France, has a population of only about 15,000, but massive crowds of pilgrims have flooded the town since 1858, when news spread of an apparition…
Becoming educated and informed about Fabry disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your Fabry disease journey.
There is no cure for Fabry disease yet, but there are treatments that can help manage the disease. Learn more about the approved and experimental therapies here.
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