Amicus Therapeutics

This study tests a drug called migalastat in 8 children aged 2 to 12 with Fabry disease, a rare genetic condition. The goal is to see if the drug is safe and how it works in the body over 12 months. Participants must have a specific genetic change that makes the drug effective.

This program offers early access to an experimental drug (ATB200/AT2221) for children with infantile-onset Pompe disease who are not getting better with standard treatment. It is for kids up to 18 years old who cannot join other clinical trials. The goal is to provide the drug wh…

This study tests a new treatment (cipaglucosidase alfa/miglustat) for children with infantile-onset Pompe disease, a rare genetic disorder that causes muscle weakness and heart problems. The trial includes children from 6 months to under 18 years old who have either never receive…

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 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 follows 450 adults with Fabry disease to see how well treatments, especially migalastat, work over the long term. Researchers will measure kidney function, track heart and brain events, and check quality of life. Participants are either already taking migalastat or sta…