Disease · MONDO_0009290
glycogen storage disease II
6 sourcesdiseases-2026-09-18-0.1.0
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ConductScience Library. glycogen storage disease II. Diseases, record MONDO_0009290. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009290
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Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Other names
Alpha-1,4-glucosidase acid deficiency, GAA glycogen storage disease, GSD due to acid maltase deficiency, GSD type 2, GSD type II, Glycogen storage disease due to acid maltase deficiency, Pompe Disease, acid maltase deficiency, generalised glycogenosis, glycogen storage disease caused by mutation in GAA, glycogen storage disease type 2, glycogen storage disease type II, glycogenosis due to acid maltase deficiency, glycogenosis type 2, glycogenosis type II
- Open Targets
- Highest stage of its drugs
- Approval, for 4 of its 16 drugs, from ClinicalTrials.gov, DailyMed, EMA Human Drugs, FDA, PMDA and TTD
- Open Targets
Drugs16
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| ALGLUCOSIDASE ALFA | CHEMBL1201824 | Enzyme | Approval | ClinicalTrials.gov, DailyMed, EMA Human Drugs, PMDA and TTD | 37 | 32 | 30 | Drugs and targets |
| MIGLUSTAT | CHEMBL1029 | Small molecule | Approval | EMA Human Drugs | 10 | 9 | 6 | Drugs and targets |
| AVALGLUCOSIDASE ALFA | CHEMBL4594320 | Enzyme | Approval | EMA Human Drugs, FDA and TTD | 14 | 7 | 7 | Drugs and targets |
| CIPAGLUCOSIDASE ALFA | CHEMBL4594329 | Enzyme | Approval | EMA Human Drugs, FDA and TTD | 12 | 6 | 6 | Drugs and targets |
| REVEGLUCOSIDASE ALFA | CHEMBL3707295 | Enzyme | Phase 3 | ClinicalTrials.gov and TTD | 5 | 3 | 3 | Drugs and targets |
| DUVOGLUSTAT | CHEMBL307429 | Small molecule | Phase 3 | TTD | 1 | 0 | 0 | Drugs and targets |
| CLENBUTEROL | CHEMBL49080 | Small molecule | Phase 2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| DUVOGLUSTAT HYDROCHLORIDE | CHEMBL460785 | Small molecule | Phase 2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| ZOCAGLUSAGENE NUZAPARVOVEC | CHEMBL5314721 | Gene | Phase 2 | TTD | 3 | 0 | 0 | Drugs and targets |
| ALBUTEROL | CHEMBL714 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
1 to 10 of 16
See all 16 drugsTargets6
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| ADRB2 | Beta-2 adrenergic receptor | 2 | Beta-2 adrenergic receptor agonist | Phase 2 | https://conductscience.org/library/genes/154 | Drugs and targets |
| GAA | Lysosomal alpha-glucosidase | 2 | Lysosomal alpha-glucosidase stabiliser | Phase 3 | https://conductscience.org/library/genes/2548 | Drugs and targets |
| ACHE | Acetylcholinesterase | 1 | Acetylcholinesterase inhibitor | Early phase 1 | https://conductscience.org/library/genes/43 | Drugs and targets |
| FKBP1A | Peptidyl-prolyl cis-trans isomerase FKBP1A | 1 | FK506-binding protein 1A inhibitor | Phase 1 | https://conductscience.org/library/genes/2280 | Drugs and targets |
| MS4A1 | B-lymphocyte antigen CD20 | 1 | B-lymphocyte antigen CD20 binding agent | Phase 1 | https://conductscience.org/library/genes/931 | Drugs and targets |
| UGCG | Ceramide glucosyltransferase | 1 | Ceramide glucosyltransferase inhibitor | Approval | https://conductscience.org/library/genes/7357 | Drugs and targets |
Trials53
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 2 more are not shown, since the checks do not confirm them.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT03729362 | A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease | Phase 3 | 125 | 2023-09-11 | Pompe Disease (Late-onset) | CIPAGLUCOSIDASE ALFA, MIGLUSTAT | Its record names the disease | ClinicalTrials.gov |
| NCT04138277 | A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD) | Phase 3 | 119 | 2026-01-12 | Pompe Disease (Late-onset) | CIPAGLUCOSIDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT02782741 | Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease | Phase 3 | 101 | 2021-04-08 | Glycogen Storage Disease Type II;Pompe's Disease | ALGLUCOSIDASE ALFA, AVALGLUCOSIDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT00158600 | A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease | Phase 3 | 90 | 2010-07-23 | Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease, Glycogenosis 2 | ALGLUCOSIDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT00455195 | Late-Onset Treatment Study Extension Protocol | Phase 4 | 81 | 2012-01-05 | Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Glycogenesis Type II, Acid Maltase Deficiency (AMD) | ALGLUCOSIDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT02675465 | First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 | Phase 1/2 | 29 | 2025-10-23 | Pompe Disease | CIPAGLUCOSIDASE ALFA, MIGLUSTAT | Its record names the disease | ClinicalTrials.gov |
| NCT01380743 | Drug-drug Interaction Study | Phase 2 | 25 | 2018-08-17 | Pompe Disease | ALGLUCOSIDASE ALFA, DUVOGLUSTAT HYDROCHLORIDE | Its record names the disease | ClinicalTrials.gov |
| NCT01924845 | BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) | Phase 3 | 24 | 2018-06-14 | Late-onset Pompe Disease | REVEGLUCOSIDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT01230801 | Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease | Phase 1/2 | 22 | 2018-06-11 | Pompe Disease | REVEGLUCOSIDASE ALFA | Its record names the disease | ClinicalTrials.gov |
| NCT03019406 | A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa | Phase 2 | 22 | 2021-11-22 | Glycogen Storage Disease Type II-Pompe's Disease | ALGLUCOSIDASE ALFA, AVALGLUCOSIDASE ALFA | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 53
See all 53 trialsComparisons in its trials20
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| Cipaglucosidase Alfa/Miglustat vs Alglucosidase Alfa/Placebo: deaths from any cause | 0 of 85 | 0 of 38 | 123 | NCT03729362 | Trial comparisons |
| Cipaglucosidase Alfa/Miglustat vs Alglucosidase Alfa/Placebo: serious adverse events | 8 of 85 | 1 of 38 | 123 | NCT03729362 | Trial comparisons |
| Cipaglucosidase Alfa/Miglustat vs Alglucosidase Alfa/Placebo: Number of Participants Improving on Both 6MWD and % Predicted FVC at Week 52 | 14 of 85 | 0 of 37 | 122 | NCT03729362 | Trial comparisons |
| Treatment Continued Group vs Treatment Switched Group: deaths from any cause | 1 of 81 | 0 of 37 | 118 | NCT04138277 | Trial comparisons |
| Treatment Continued Group vs Treatment Switched Group: serious adverse events | 17 of 81 | 10 of 37 | 118 | NCT04138277 | Trial comparisons |
| Alglucosidase Alfa: <18 Years vs Alglucosidase Alfa: >=18 Years: deaths from any cause | 0 of 10 | 0 of 10 | 20 | NCT01410890 | Trial comparisons |
| Alglucosidase Alfa: <18 Years vs Alglucosidase Alfa: >=18 Years: serious adverse events | 1 of 10 | 0 of 10 | 20 | NCT01410890 | Trial comparisons |
| Albuterol vs Placebo Comparator: Number of Participants With Adverse Events. | 5 of 8 | 5 of 5 | 13 | NCT01885936 | Trial comparisons |
| Albuterol vs Placebo Comparator: deaths from any cause | 0 of 8 | 0 of 5 | 13 | NCT01885936 | Trial comparisons |
| Albuterol vs Placebo Comparator: serious adverse events | 0 of 8 | 0 of 5 | 13 | NCT01885936 | Trial comparisons |
1 to 10 of 20
See all 20 comparisons in its trialsPapers from its trials29
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0009290
GET https://conductscience.org/api/diseases/v1/MONDO_0009290/trials?page=2