Who is eligible for clinical trial NCT04454216?

Participants must meet protocol criteria for Glycogen Storage Disease VI. Confirm exact inclusion and exclusion requirements with the study coordinator.

Does clinical trial NCT04454216 provide travel or cost reimbursement?

Check with the site coordinator at the participating facility for travel and lodging stipend availability, and for which routine-care costs are covered.

🏛️ Verified NIH Record • Updated 2026-05-04

GSD VI and GSD IX Natural History (NCT04454216)

🟢 Recruiting Interventional Protocol 📊 Observational Clinical Research Sponsor: Duke University

🩺 Plain-English Summary (8th-Grade Level)

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.

Who can join: To join this study, participants generally need to meet the listed inclusion criteria (7 items) and avoid the listed exclusions (2 items).

Location: Duke University — Durham, North Carolina

📋 "Do I Qualify?" — 1-Minute Self Screener

Instant Checklist

Check every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).

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

Usually NOT eligible if any of the following apply:

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

🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.

📍 All Participating Trial Locations (1 Sites)

Duke University — Durham, North Carolina

💰 Cost, Insurance & Patient Rights

100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
Voluntary Participation: You may withdraw at any time without affecting your standard medical care.

🏛️ View Official NIH Record ↗