Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, discusses research confirming the safety of Fabry patients continuing enzyme replacement therapy (ERT) during pregnancy. 

Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.

Ms. Laney presented interim data of a Fabry disease pregnancy sub-registry at this year’s WORLDSymposium conference. The data demonstrated positive safety levels for pregnant Fabry patients receiving agalsidase-beta ERT. However, Ms. Laney still acknowledges that individuals should consult with their primary care physicians about the risks and benefits of remaining on ERT during pregnancy.

For more information about Fabry disease and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/