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NCT04454216

GSD VI and GSD IX Natural History

Recruiting
Not specifiedAges 0–90Observational
Duke University
~400 participants
Updated 2026-05-05 on ClinicalTrials.gov
What's tested:No intervention

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Progression of disease confirmed by medical record review
Measured over through study completion, an average of 10 years
+3 more outcomes measured

Conditions

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

Explore related trials

Glycogen storage disease type IXBGlycogen Storage Disease Type VIPHOSPHORYLASE KINASE, BETA SUBUNITPHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNITPHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNITPHOSPHORYLASE KINASE, MUSCLE, GAMMA-1PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2PYGL GeneTNC wt Allele

Where it's being run

1 sites across 1 states
North Carolina1

Study leadership

  • Priya Kishnani, MD · PRINCIPAL_INVESTIGATOR · Duke University

Who to contact

Rebecca L Koch, PhD, RDN
[email protected]
919-681-8823
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Eligibility criteria

Inclusion

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

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

What this trial measures

  • Progression of disease confirmed by medical record reviewthrough study completion, an average of 10 years
  • Serum biotinidase activitythrough study completion, an average of 10 years
  • Number of genotypes presentedthrough study completion, an average of 10 years
  • Number of phenotypes presentedthrough study completion, an average of 10 years