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
Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
Duke University
Lead sponsor