GSD VI and GSD IX Natural History

Recruiting now

Conditions studied: 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

In brief

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.

Key facts

Study ID

NCT04454216

Run by

Duke University

People needed

400

Starts

2020-09-18

Expected to finish

2030-01-01

Last updated by the study team

2026-05-05

Who can join

Age: any, up to 90. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent

Where it is running

• Duke University — Durham, North Carolina, United States (enrolling)

Full record on ClinicalTrials.gov

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