Study of GBE deficiency in GSD IV and APBD
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This study follows people with GBE deficiency caused by GSD IV or APBD to better understand how the condition works over time. It may help researchers and clinicians plan future care and treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed diagnosis of GSD IV or APBD
- Your diagnosis is proven by GBE1 gene changes, or by low GBE activity in body tissues
- You can provide consent for the study (or a legal representative can for the participant)
- You can sign permission to let the study team access your medical records
- If you are pregnant, you can still join if you have GSD IV or APBD
- A clinician must confirm the needed test results (including histology, if applicable)
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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