RecruitingNCT06636383
Metabolic
Glycogen Storage Disease
Also known as GSD, von Gierke disease (GSD Ia), Cori disease (GSD III), Hers disease (GSD VI)
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.
38
studies recruiting now
as of 7 Sept 2026
232
studies registered in total
as of 7 Sept 2026
12
countries with a recruiting site
as of 7 Sept 2026
21 Jan 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1NCT07354724
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
RecruitingNCT06396546
'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'
RecruitingNCT06214507
Danon Disease Natural History Study
RecruitingPhase 1 / Phase 2NCT07282847
A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 38 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
HypoglycemiaHepatomegalyExercise intoleranceMuscle cramps and weaknessGrowth retardationLactic acidosisHyperuricemia
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
4 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Cipaglucosidase Alfa (Pombiliti)
Phase 3Alglucosidase Alfa (Myozyme)
Phase 3Avalglucosidase Alfa (Nexviadyme)
Phase 3Miglustat (Miglustat dipharma)
Before you apply
Things trial teams commonly ask about for Glycogen Storage Disease. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).