Liver enzyme gene study for GSD VI or GSD IX
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at the natural history (how the illness typically progresses) in people with GSD VI or GSD IX. It may help doctors better understand disease patterns, which can support future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have been diagnosed with GSD VI or GSD IX
- Your genetic test shows a known disease-causing variant in specific genes (PYGL, PHKA1, PHKA2, PHKG1, PHKG2, or PHKB), or there is evidence your body has the condition
- Tests show low GP activity or low PhK activity (enzyme testing)
- A clinician has confirmed the diagnosis using tissue/lab findings (histology)
- You (or your legal representative) can give consent, and you can allow release of medical records
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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