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GSD VI and GSD IX Natural History
RecruitingObservational study
Who can join
Ages 0 to 90 · All sexes
Full eligibility criteria
Inclusion Criteria: * Diagnosis of GSD VI or GSD IX via: * Two variants in the PYGL, PHKA1, PHKA2, PHKG1, PHKG2, or PHKB gene (or one variant with evidence of disease). Note: for males, one variant in the PHKA1 or PHKA2 gene is sufficient for inclusion. * Deficient GP activity or PhK activity per enzymology * Histology as confirmed by clinician * Pregnant women with a diagnosis of GSD VI or GSD IX will be included * Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative) * Able to provide consent for release of medical records Exclusion criteria: * Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
About the study
Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.
What is being tested
- No intervention (other)
Sponsor: Duke University · Participants: 400 · Started: Sep 18, 2020
Contact the study team
- Rebecca L Koch, PhD, RDN · Phone: 919-681-8823
- Nisha Dalal, M.S. CCC-SLP · Phone: 919-668-3107
Official record on ClinicalTrials.gov — NCT04454216
Locations in the U.S.
| North Carolina | Duke University, Durham |
From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.