RecruitingNCT04454216
GSD VI and GSD IX Natural History
Sponsor
Duke University
Enrollment
400 participants
Start Date
Sep 18, 2020
Study Type
OBSERVATIONAL
Conditions
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.
Eligibility
Min Age: 0 YearsMax Age: 90 Years
Inclusion Criteria7
- 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 Criteria1
- Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
OTHERNo intervention
This is an observational study that consists of data abstraction from patient medical records.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT04454216