About Glycogen Storage Disease
Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by enzyme deficiencies in glycogen synthesis or breakdown pathways. There are over 10 recognized types affecting liver, muscle, or both. GSD Type I (von Gierke) causes severe fasting hypoglycemia and hepatomegaly; GSD Type V (McArdle) causes exercise intolerance and muscle cramps; GSD Type III causes progressive hepatic and muscular disease. Each type requires distinct management and has separate clinical trial pathways.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Glycogen Storage Disease trials.
Specify the exact GSD type — trials are type-specific; GSD I, III, V, VI are the most common subjects of active trials
Fasting tolerance testing and continuous glucose monitoring data are standard baseline requirements for GSD I
Muscle biopsy findings and creatine kinase levels are eligibility markers for muscle-type GSDs (GSD V, GSD III)
GSD Ia versus Ib distinction matters — GSD Ib has neutropenia and may have different trial eligibility
Patient Resources
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