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 a smarter glucose monitor stop dangerous lows? small study tests predictive alerts
Symptom relief CompletedThis completed study tested whether a continuous glucose monitor with predictive alerts (Dexcom G7) can reduce low blood sugar better than a standard alert monitor (Dexcom ONE+) in 11 adults with glycogen storage disease or congenital hyperinsulinism. Participants wore each devic…
Sponsor: University Hospital Padova • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Robotic leg device shows promise for helping muscle disease patients walk
Symptom relief CompletedThis study tested a powered leg exoskeleton (Keeogo) in 50 people with various muscle disorders to see if it is safe and helps them walk better. Participants performed walking tests with and without the device. The goal was to see if the device could improve walking distance and …
Sponsor: Institut de Myologie, France • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 UTC
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Robotic exoskeleton shows promise for muscle disease patients
Symptom relief CompletedThis study tested a wearable robotic suit called MyoSuit that assists knee and hip movement in people with various muscle disorders. 32 participants used the device to perform walking tests, and researchers checked for safety and any immediate improvements in walking ability. The…
Sponsor: Institut de Myologie, France • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 UTC
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Scientists hunt for missing genetic clues in mystery diseases
Knowledge-focused CompletedThis study aimed to find new genetic changes that might cause inherited diseases, especially in people who already have a diagnosis but whose genetic tests were not clear. Researchers studied 56 patients and their family members to look for hidden variants in parts of the DNA tha…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC