POMPE DISEASE

This program offers early access to an experimental treatment (ATB200/AT2221) for people with Pompe disease who cannot join other clinical trials or choose not to use standard therapy. It aims to provide treatment while collecting safety data. Participants must have a confirmed d…

This study tests whether adding the experimental drug S-606001 to standard enzyme replacement therapy can help adults with late-onset Pompe disease breathe better and walk farther. About 45 participants will receive either the drug or a placebo, and researchers will monitor safet…

This study is a worldwide registry that will follow about 500 people with Pompe disease, including both late-onset and infantile forms. It aims to understand the long-term safety and real-world effectiveness of approved treatments, as well as how the disease progresses without tr…

This study follows up to 400 people with Pompe disease to see how their immune system reacts to enzyme replacement therapy. Researchers will collect medical records from birth to age 18 to learn why some patients develop antibodies that reduce treatment effectiveness. No new trea…

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 collects safety information from about 100 women with Pompe disease who used the medicine Nexviazyme during pregnancy or while breastfeeding, and from their babies. Researchers will watch for any health problems in mothers and track infant growth and development throug…

This study aims to learn more about how Pompe disease affects the brain and nerves over time. Researchers will use brain scans and tests of thinking, language, and movement to track changes in 45 children and adults. Participants will be followed for 3 to 6 years. The study does …