Long-term study of outcomes in Pompe disease

This study follows people with Pompe disease over time and checks their “CRIM status,” which is a lab result about a key protein. It may help researchers better understand the disease and how it progresses for different patient groups.

This study tests an experimental drug (S-606001) for people with late-onset Pompe disease. It aims to see if the drug can improve breathing and walking ability. You cannot have had enzyme replacement therapy for at least 3 months before joining.

This study is a follow-up for people with late-onset Pompe disease who have already completed a previous study of the investigational drug S-606001. It aims to continue monitoring safety and how well the treatment works over time.

This study looks at how Pompe disease affects the brain and nervous system. You may be able to join if you have a confirmed diagnosis of infantile or late-onset Pompe disease and agree to participate.

This is a registry study that collects information over time from people with Pompe disease. It helps doctors and researchers better understand the condition and how it affects daily life, without testing any new treatments.

This trial tests a new medication, S-606001, given alongside your current enzyme replacement therapy (ERT) for late-onset Pompe disease. It may help improve your breathing and walking ability.