Genzyme, A Sanofi Company

This study tests a drug called avalglucosidase alfa in 13 Chinese children with infantile-onset Pompe disease, a rare genetic condition that weakens the heart and muscles. The treatment is given as an IV infusion every two weeks for 52 weeks. Researchers will check if it helps ch…

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…

This study follows pregnant women with Pompe disease to see how the condition and its treatments affect pregnancy and baby growth. About 20 women will join, and their babies will be tracked for three years after birth. No new treatments are tested; the goal is simply to gather in…

This study is a worldwide registry that follows up to 9,000 people with Fabry disease over many years. Its goal is to better understand how the disease progresses and how current treatments work in real life. Participants receive their usual care, and no experimental treatments a…

This study is a worldwide registry that collects information from people with Pompe disease, both treated and untreated. The goal is to better understand how the disease progresses and how treatments work over the long term. Anyone with a confirmed diagnosis of Pompe disease can …