Genzyme, A Sanofi Company

This study tests an enzyme replacement therapy called avalglucosidase alfa in up to 13 Chinese children with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and heart problems. Participants receive the drug by IV every two weeks for 52 we…

This study is a worldwide registry that collects information from people with Pompe disease, whether they are receiving treatment or not. The goal is to better understand how the disease progresses and varies among patients. By tracking outcomes over time, researchers hope to imp…

This study follows pregnant women with Pompe disease to see how their condition and treatments affect pregnancy and baby growth. About 20 women will join, and their babies will be checked for up to 3 years after birth. No new treatments are tested—only standard care is given.

This study is a large, ongoing registry that follows up to 9,000 people with Fabry disease, a rare genetic disorder. It does not test any new treatments but instead collects information from routine doctor visits to better understand how the disease progresses over time. The goal…

This study is a large, ongoing registry that collects health information from people with Gaucher disease around the world. It does not test any new treatments; instead, it observes patients as they receive their usual care. The goal is to better understand how the disease progre…