Reproductive Options for People With Fabry Disease

The thought of potentially passing Fabry disease on to your children can be daunting. However, there are options to limit this risk and help with family planning. How is Fabry disease inherited? Mutations in the GLA gene cause Fabry disease. This gene resides on the X…

I had a happy childhood. It was fun to grow up in a large family with six brothers and one sister, especially during the holidays. I am the third eldest. As part of a low-to-middle-income family, we all received new things occasionally, but we also made good use of hand-me-down…

Prenatal genetic diagnosis can be a useful tool to detect genetic disorders such as Fabry disease. The following information should help you understand the process, including what happens before, during and after testing. Inheritance of Fabry disease Fabry disease is a rare genetic disorder that results in the buildup…

The results from a one-year extension study of the Phase 3 ATTRACT trial demonstrate the long-term safety and effectiveness of Galafold (migalastat) in people with Fabry disease with specific mutations. Importantly, the therapy’s efficacy and safety also were observed…

Research has shown that newborn screening can effectively detect Fabry disease in infants. Still, more efforts are necessary to expand such screening in the U.S. and elsewhere. You may find the following information useful as you learn more about newborn screening for Fabry disease. What is Fabry disease? Fabry disease…

As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. Baby’s First Test is a program of Expecting Health, an organization focused on pregnancy and newborn health. The…

A single administration of the experimental gene therapy ST-920 in a Fabry disease mouse model safely and effectively increased the levels of the alpha-GalA enzyme — which is lacking in people with the genetic disorder — in…

Note: This story was updated Sept. 9, 2020, to reflect that PRX-102 is licensed to Chiesi for all markets, including the U.S. The U.S. Food and Drug Administration (FDA) has accepted for review an application from Chiesi Global Rare Diseases and Protalix BioTherapeutics that asks for approval of…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raising awareness of rare chronic disorders such as Fabry disease could mean more patients benefiting from earlier diagnosis and treatment. Here are some points about Fabry disease, and efforts to make it more widely known. What is Fabry disease? One of about 7,000 known rare diseases, Fabry…