GSD VI and GSD IX Natural History
Recruiting
Observational Study
Glycogen Storage Disease VI
GLYCOGEN STORAGE DISEASE IXa1
GLYCOGEN STORAGE DISEASE IXa2
Glycogen Storage Disease IXB
Glycogen Storage Disease IXC
GSD 9 (All Subtypes)
GSD 6
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 0 – 90
- Sex
- Any
- Study type
- Observational
- Participants needed
- 400 (estimated)
- Sponsor
- Duke University · Other
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About This Trial
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.
Trial Locations
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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 …
Contacts