Actively Recruiting
GSD VI and GSD IX Natural History
Led by Duke University · Updated on 2026-05-05
400
Participants Needed
1
Research Sites
484 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
GSD VI and GSD IX Natural History
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of GSD VI or GSD IX confirmed by either two gene variants (in PYGL, PHKA1, PHKA2, PHKG1, PHKG2, or PHKB) or one variant with evidence of disease (for males, one variant in PHKA1 or PHKA2 is sufficient)
- Deficient glycogen phosphorylase (GP) or phosphorylase kinase (PhK) activity confirmed by enzymology
- Diagnosis confirmed by histology as assessed by a clinician
- Pregnant women with a diagnosis of GSD VI or GSD IX can participate
- Ability to provide informed consent for self or affected individual (including by legally authorized representative if needed)
- Ability to provide consent for release of medical records
You will not qualify if you...
- Unable to provide informed consent for participation for self or by legally authorized representative/legal guardian/parent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Duke University
Durham, North Carolina, United States, 27710
Actively Recruiting
Research Team
R
Rebecca L Koch, PhD, RDN
CONTACT
N
Nisha Dalal, M.S. CCC-SLP
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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