Recruiting

Observational Study

Sponsor:

Duke University

Code:

NCT04454216

Conditions

Glycogen Storage Disease VI

GLYCOGEN STORAGE DISEASE IXa1

GLYCOGEN STORAGE DISEASE IXa2

Glycogen Storage Disease IXB

Glycogen Storage Disease IXC

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

No intervention

Study Details

Brief summary:

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

Glycogen Storage Disease VI

GLYCOGEN STORAGE DISEASE IXa1

GLYCOGEN STORAGE DISEASE IXa2

Glycogen Storage Disease IXB

Glycogen Storage Disease IXC

Study ID

NCT04454216

Start date

Sep 18, 2020

Status verified date

May, 2026

Completion date

Jan 1, 2030

Anticipated

Primary completion date

Jan 1, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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 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 criteria:

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

Study Design

Enrollment

400 participants

Anticipated

Interventions and Outcome Measures

Interventions

No intervention

This is an observational study that consists of data abstraction from patient medical records.

Primary outcome measure

  • Progression of disease confirmed by medical record review [ Time Frame: through study completion, an average of 10 years ]
  • Serum biotinidase activity [ Time Frame: through study completion, an average of 10 years ]
  • Number of genotypes presented [ Time Frame: through study completion, an average of 10 years ]
  • Number of phenotypes presented [ Time Frame: through study completion, an average of 10 years ]

Central Contacts and Locations

Central contacts

Rebecca L Koch, PhD, RDN

919-681-8823rebecca.koch@duke.edu

Nisha Dalal, M.S. CCC-SLP

919-668-3107nisha.dalal@duke.edu

Locations

Duke University

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Rebecca L Koch, PhD, RDN

919-681-8823rebecca.koch@duke.edu

Nisha Dalal, M.S. CCC-SLP

919-668-3107nisha.dalal@duke.edu

More Information

Sponsor

Duke University

Last update posted

May 5, 2026

Last verified

May, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Duke University on 2026-05-05.