Disorder of glycogen metabolism
MONDO:0002412An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
Also known as: GSD, glycogen storage disease, glycogen storage disorder, glycogenoses, glycogenosis, inborn error of glycogen metabolic process, inborn glycogen metabolic process disorder, inborn glycogen storage disorder
69 clinical trials for this condition and its sub-types, 15 tagged with Disorder of glycogen metabolism itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Disorder of glycogen metabolism
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Glycogen storage disease II 31 trials · 41 incl. sub-types
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Glycogen storage disease I 10 trials · 13 incl. sub-types
3 sub-types
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 7 trials
- Glycogen storage disease type 1 due to SLC37A4 mutation 0 trials · 3 incl. sub-types Sub-types →
- Glycogen storage disease Id 0 trials
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Danon disease 5 trials
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Glycogen storage disease IX 2 trials · 3 incl. sub-types
4 sub-types
- Glycogen storage disease IXa1 2 trials
- Glycogen storage disease IXa2 2 trials
- Glycogen storage disease IXb 2 trials
- Glycogen storage disease IXc 2 trials
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Glycogen storage disease III 2 trials
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Glycogen storage disease V 2 trials
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Glycogen storage disease VI 2 trials
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8 sub-types
- Adult polyglucosan body disease 1 trial
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 0 trials
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 0 trials
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 0 trials
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 0 trials
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 0 trials
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 0 trials
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 0 trials
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Glycogen storage disease due to liver phosphorylase kinase deficiency 0 trials · 2 incl. sub-types
2 sub-types
- Glycogen storage disease IXa1 2 trials
- Glycogen storage disease IXc 2 trials
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Lafora disease 1 trial
2 sub-types
- Myoclonic epilepsy of Lafora 1 0 trials
- Myoclonic epilepsy of Lafora 2 0 trials
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Glycogen storage disease VII 1 trial
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GYG1-related disorder of glycogen metabolism 0 trials · 1 incl. sub-types
2 sub-types
- Polyglucosan body myopathy type 2 1 trial
- Glycogen storage disease XV 0 trials
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Glycogen storage disease IXd 0 trials
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1 sub-type
Most studied deeper sub-types
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Can an oral pill ease breathing and muscle weakness in pompe disease?
Disease control Not yet recruitingThis early-stage trial is testing an experimental oral medication called S-606001 in adults with late-onset Pompe disease, a condition that causes progressive muscle weakness and breathing problems. The main goal is to see if the drug is safe and tolerable. Researchers will also …
Phase 1 • Sponsor: Shionogi • Aim: Disease control
Last updated Aug 28, 2026 00:00 UTC
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Can an oral pill boost muscle strength in pompe disease?
Disease control Not yet recruitingThis study tests the long-term safety and effectiveness of an experimental oral drug called S-606001 in adults with late-onset Pompe disease, a genetic condition that causes progressive muscle weakness. Participants who completed a prior S-606001 study can join, and they will rec…
Phase 2 • Sponsor: Shionogi • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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Breakfast breakthrough: can two sugars boost liver fuel?
Knowledge-focused Not yet recruitingThis study looks at whether eating a breakfast with two types of carbohydrates (glucose and fructose) can increase glycogen stored in the liver. Twelve healthy male athletes will be tested after different breakfasts using MRI scans and blood samples. The goal is to learn the best…
Sponsor: Manchester Metropolitan University • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
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Broccoli sprout drink may enhance athletic recovery, study suggests
Knowledge-focused Not yet recruitingThis study tests whether a drink made from broccoli sprouts can improve how well endurance athletes perform and recover after cycling. Thirty healthy adults who exercise regularly will drink either the broccoli sprout drink or a placebo at different times before a cycling test. R…
Sponsor: The Swedish School of Sport and Health Sciences • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC