GSD VI and GSD IX Natural History
Duke University
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.
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 description of glycogen phosphorylase (GP) and phosphorylase kinase (PhK) deficiency to be developed, which will permit development of treatment strategies for these diseases. Duke will be the only site where this study takes place. However, since these are rare disorders, participants who receive care at other institutions will be included. The investigators will collect retrospective data from patient c…
Eligibility
- Age range
- 0–90 years
- Sex
- All
- Healthy volunteers
- No
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 o…
Interventions
- OtherNo intervention
This is an observational study that consists of data abstraction from patient medical records.
Location
- Duke UniversityDurham, North Carolina