GLYCOGEN STORAGE DISEASE IXa1, GLYCOGEN STORAGE DISEASE IXa2, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, Glycogen Storage Disease VI, GSD 6, GSD 9 (All Subtypes)
Conditions
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 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 charts on diagnosed individuals, as far back as necessary to capture the clinical course of the disorder. Prospective data collected from patient charts after enrollment will be captured as well. Participant's medical records will be continually reviewed for the duration of the study. Data will be collected from medical records and will only pertain to clinically relevant information, including, but not limited to: demographic and diagnostic information, tissue biopsy results, medical and family history, review of systems, imaging studies, results of liver and/or muscle testing, and urine and blood laboratory results.
Interventions
OTHERNo intervention
This is an observational study that consists of data abstraction from patient medical records.
Sponsors
Duke University
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
0 Years to 90 Years
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 of medical records
Exclusion criteria
* Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Progression of disease confirmed by medical record review | through study completion, an average of 10 years |
| Serum biotinidase activity | through study completion, an average of 10 years |
| Number of genotypes presented | through study completion, an average of 10 years |
| Number of phenotypes presented | through study completion, an average of 10 years |
Countries
United States
Contacts
CONTACTRebecca L Koch, PhD, RDN
CONTACTNisha Dalal, M.S. CCC-SLP
PRINCIPAL_INVESTIGATORPriya Kishnani, MD
Duke University
Outcome results
None listed