POMPE DISEASE

This study is testing whether adding an investigational drug called S-606001 to standard enzyme replacement therapy (ERT) is safe and can help adults with late-onset Pompe disease. It will measure changes in breathing, walking ability, muscle strength, and fatigue over one year. …

This program provides access to an experimental treatment called ATB200/AT2221 for people with Pompe disease who can't join regular clinical trials or whose current enzyme replacement therapy isn't working well enough. It's offered on a case-by-case basis to eligible patients who…

This study is creating a worldwide registry to collect long-term information from 500 people with Pompe disease. It aims to understand how well current treatments work in real life, monitor their safety over time, and learn about the natural course of the disease in untreated pat…

This study aims to collect safety information on pregnant and breastfeeding women with Pompe disease who are taking the medication Nexviazyme (avalglucosidase alfa). Researchers will follow the women and their babies for up to 10 years to check for any pregnancy complications or …

This study aims to understand the long-term effects of Pompe disease on the brain and nervous system. Researchers will observe 45 children with Pompe disease for 3 to 6 years, using brain scans and developmental tests. The goal is to learn how the disease progresses and affects t…

This global registry aims to better understand Pompe disease, a rare genetic disorder that causes muscle weakness. It will track 2,000 patients over time, both those receiving treatment and those who are not, to learn how the disease progresses and how treatments work long-term. …