Pompe disease screening and follow-up study
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
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.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed diagnosis of Pompe disease (infantile, atypical, or juvenile).
- Your Pompe diagnosis must be the type this study is looking for: infantile, atypical, or juvenile onset.
- You must be able to (or have a legal representative who can) give written consent to join.
- You will likely be asked for additional information and follow-up visits over time.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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This study follows people with Pompe disease over a long period to learn how they do over time, especially those receiving enzyme replacement therapy. Your results could help doctors better understand expected outcomes and refine care.
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 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 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 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.
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