Glycogen storage disease II
MONDO:0009290Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.
Also known as: Alpha-1,4-glucosidase acid deficiency, GAA glycogen storage disease, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Pompe Disease, Pompe disease, acid maltase deficiency
50 clinical trials for this condition and its sub-types, 31 tagged with Glycogen storage disease II itself.
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Sub-types of Glycogen storage disease II
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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