Natural History Study of Rare Glycogen Storage Diseases Including Types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 Syndrome, and Danon Disease

What this Trial Is About

Researchers are collecting important medical information to better understand several ultra-rare Glycogen Storage Diseases GSDs, including types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. The goal is to build a detailed natural history database that describes these rare diseases to help guide future treatment strategies. Participants include individuals diagnosed with these rare GSDs, and data will be gathered from multiple sources to capture the full clinical course of each condition. This observational study does not involve any treatment or intervention. Instead, it focuses on collecting data from medical records retrospectively and prospectively. The study is conducted at Duke University but includes participants receiving care elsewhere. Researchers will review medical charts over time to gather clinical, laboratory, biochemical, and imaging information relevant to the participants conditions. Participants will have their medical records continually reviewed throughout the study, which is expected to last an average of 10 years. Data collected will include demographics, diagnostic details, biopsy results, medical and family history, system reviews, and laboratory tests related to liver, muscle, nerve function, as well as urine and blood tests. The main outcome measured is the progression of the disease as confirmed by ongoing medical record review.

Rare Glycogen Storage Diseases Natural History Study