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 Gene-Silencing drug tame a rare heart disease?
Disease control Recruiting nowThis trial tests an investigational medicine called ATR 1072 in adults with PRKAG2 syndrome, a genetic condition that causes abnormal heart muscle thickening and rhythm problems. The drug is designed to reduce the activity of the faulty PRKAG2 gene. Researchers are evaluating its…
Phase 1/2 • Sponsor: Atrium Therapeutics • Aim: Disease control
Last updated Sep 20, 2026 00:00 UTC
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One-Time gene therapy could change pompe disease treatment
Disease control Recruiting nowThis study tests a single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…
Phase 1/2 • Sponsor: AskBio Inc • Aim: Disease control
Last updated Jul 22, 2026 00:00 UTC
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New pill could boost breathing in pompe disease – early trial underway
Disease control Recruiting nowThis study tests an experimental oral drug called S-606001 in 45 adults with late-onset Pompe disease. Participants take the drug or a placebo on top of their standard enzyme replacement therapy. The main goal is to see if the drug improves lung function and walking ability over …
Phase 2 • Sponsor: Shionogi • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?
Knowledge-focused Recruiting nowThis study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…
Sponsor: Institute of Liver and Biliary Sciences, India • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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New scan techniques aim to solve rare heart disease mysteries
Knowledge-focused Recruiting nowThis study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…
Sponsor: Chinese Academy of Medical Sciences, Fuwai Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC
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Scientists launch Largest-Ever study of Ultra-Rare GSDs
Knowledge-focused Recruiting nowThis study tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC