Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.
• Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease
‣ Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases)
⁃ One variant in the gene associated with the specific GSD type (for autosomal dominant 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 or adults 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