Glycogen storage disease due to acid maltase deficiency, infantile onset

This study tests a drug called avalglucosidase alfa in 13 Chinese children with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and heart problems. Participants will receive the drug through an IV every two weeks for about a year. The goa…

This study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …

This Phase 3 trial is testing a combination of two drugs—cipaglucosidase alfa (an enzyme replacement therapy) and miglustat (an oral medication)—in children with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and the heart. The study includes both chi…

This expanded access program offers a new treatment combination (ATB200 and AT2221) to children with infantile-onset Pompe disease who are not eligible for other clinical trials and are declining on standard enzyme replacement therapy. The goal is to provide access to this experi…

This study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…

This study is a global registry that will follow about 500 people with Pompe disease over time. It includes both treated and untreated patients, and aims to collect real-world data on treatment safety, effectiveness, and quality of life. No new treatments are being tested—this is…