POMPE DISEASE

This program offers eligible people with Pompe disease access to an experimental treatment called ATB200/AT2221. It is for those who cannot join ongoing clinical trials or choose not to use current approved therapies. The goal is to provide treatment while collecting safety data.

This study tests whether adding an experimental drug called S-606001 to standard enzyme replacement therapy can help adults with late-onset Pompe disease. Pompe disease causes muscle weakness, including breathing muscles. The trial will measure changes in lung function and walkin…

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 …

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 …

This study is a global registry for people with Pompe disease, including both late-onset and infantile forms. It will follow up to 500 participants, whether they are receiving approved treatments or not, to monitor long-term safety, effectiveness, and quality of life. The goal is…

This study collects safety information from about 100 women with Pompe disease who received the drug Nexviazyme during pregnancy or breastfeeding, and from their babies. Researchers will track pregnancy complications, birth outcomes, and infant growth and development through the …

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