Phase
Condition
Liver Disorders
Glycogen Storage Disease (Gsd)
Metabolic Disorders
Treatment
No intervention
Clinical Study ID
Ages < 90 All Genders
Study Summary
Eligibility Criteria
Inclusion
Inclusion Criteria:
Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome orDanon disease
Two variants in the gene associated with the specific GSD type (for autosomalrecessive diseases)
One variant in the gene associated with the specific GSD type (for autosomaldominant or X-linked diseases)
Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue
One variant in causative gene with evidence of disease, per a clinician
Histology as confirmed by a clinician
Able to provide informed consent for self (adults) or affected individual (minor oradults with a legally authorized representative)
Able to provide consent for release of medical records
Pregnant women with a diagnosis of a rare GSD will be included
Exclusion
Exclusion Criteria:
- Unable to provide informed consent for participation for one's self or by legallyauthorized representative/legal guardian/parent
Study Design
Study Description
Connect with a study center
Duke University
Durham, North Carolina 27710
United StatesActive - Recruiting
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