GSD VI and GSD IX Natural History
A natural history study on Glycogen Storage Disease Type VI (GSD VI) and Glycogen Storage Disease Type IX (GSD IX)
|Condition or Disease||Intervention/Treatment||Phase|
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.
Primary Outcome Measures
- 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]
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 that is pathogenic, as confirmed by clinician). 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
- Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
Contacts and Locations
|1||Duke University||Durham||North Carolina||United States||27710|
Sponsors and Collaborators
- Duke University
- Principal Investigator: Priya Kishnani, MD, Duke University
Study Documents (Full-Text)None provided.