Rare GSD Natural History Study
Part of Bones, joints & muscles, Brain & nervous system, Genetic & congenital, Heart & circulation, Hormones & metabolism clinical trials.
This study follows people with rare types of glycogen storage disease (GSD) over time to learn more about how the disease progresses. It does not test a new treatment but will collect information to help future research.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a rare type of glycogen storage disease (GSD), such as type 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, or Danon disease.
- You have genetic testing that shows a change in the GSD gene, OR enzyme testing that shows low activity of the related enzyme in your muscles, liver, or skin.
- You can provide consent for yourself, or a parent or legal guardian can provide consent for you.
- You agree to let the study team look at your medical records.
- Pregnant women with a rare GSD can also take part.
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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