Status:
RECRUITING
GSD VI and GSD IX Natural History
Lead Sponsor:
Duke University
Conditions:
Glycogen Storage Disease VI
GLYCOGEN STORAGE DISEASE IXa1
Eligibility:
All Genders
Up to 90 years
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.
Detailed Description
This natural history study will serve as a repository of clinical, laboratory, and biochemical information on individuals with GSD VI or GSD IX. This information will allow a more definitive descripti...
Eligibility Criteria
Inclusion
- 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
Exclusion
Key Trial Info
Start Date :
September 18 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2030
Estimated Enrollment :
400 Patients enrolled
Trial Details
Trial ID
NCT04454216
Start Date
September 18 2020
End Date
January 1 2030
Last Update
May 28 2025
Active Locations (1)
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1
Duke University
Durham, North Carolina, United States, 27710