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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