Pompe Disease: Nerve and Diaphragm Testing
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at the nerve that controls your diaphragm (the main muscle you use to breathe) in people with Pompe disease. It aims to better understand breathing problems in Pompe and may help guide future care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must be 18 years or older.
- For the prospective group: You must have a confirmed diagnosis of Pompe disease (by genetic testing).
- For the prospective group: You must be able to undergo breathing and nerve tests (like staying still for a short time).
- For the retrospective group: You must have had breathing problems (like unexplained low oxygen or weak breathing) in the past.
- For the retrospective group: You must have previous nerve or diaphragm tests on file from your regular checkups.
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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