Enzyme therapy for pompe disease

This study tests whether adults with late-onset Pompe disease can safely receive their enzyme replacement therapy less often, every 4 weeks instead of every 2 weeks, while maintaining stability. It aims to see if a lower treatment frequency is just as effective and improves quality of life.

This study tests the safety and effects of the enzyme replacement therapy avalglucosidase alfa (Nexviazyme) in children with infantile-onset Pompe disease. It is for children who have had Pompe symptoms since infancy and heart problems at diagnosis.

This trial is a registry, meaning it collects health information from people with confirmed Pompe disease. It may help researchers better understand the disease and improve future treatments.

This trial tests how well a new enzyme treatment (cipaglucosidase alfa with miglustat) works and how safe it is in children and babies with infant-onset Pompe disease. It may help by improving muscle function after earlier treatment or, for some babies, starting treatment when no prior enzyme therapy has been given.

This trial tests a new gene therapy for late-onset Pompe disease. It aims to see if the treatment is safe and effective, and might provide a long-term alternative to enzyme replacement therapy.

This trial provides access to an investigational combination therapy for Pompe disease when standard treatments are not suitable. It aims to help people with Pompe disease who cannot join other clinical studies or are no longer benefiting from current enzyme replacement therapy.