Disease · MONDO_0009287
glycogen storage disease due to glucose-6-phosphatase deficiency type IA
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. glycogen storage disease due to glucose-6-phosphatase deficiency type IA. Diseases, record MONDO_0009287. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009287
On this page
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
G6P deficiency type 1a, G6P deficiency type a, G6PC glycogen storage disease, GSD due to G6P deficiency type 1a, GSD due to G6P deficiency type Ia, GSD due to G6P deficiency type a, GSD type 1a, GSDIa, Glycogen storage disease due to G6P deficiency type a, Glycogen storage disease due to glucose-6-phosphatase deficiency type a, Glycogenosis due to glucose-6-phosphatase deficiency type a, glycogen storage disease caused by mutation in G6PC, glycogen storage disease due to G6P deficiency type Ia, glycogen storage disease type 1a, glycogen storage disease type Ia, glycogenosis due to glucose-6-phosphatase deficiency type 1a, glycogenosis due to glucose-6-phosphatase deficiency type Ia, glycogenosis type Ia
- Open Targets
Drugs9
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 |
|---|---|---|---|---|---|---|---|---|
| PARIGLASGENE BRECAPARVOVEC | CHEMBL5095444 | Gene | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| BETAMETHASONE | CHEMBL632 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| BETAMETHASONE SODIUM PHOSPHATE | CHEMBL1200762 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| DEXAMETHASONE | CHEMBL384467 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| HYDROCORTISONE | CHEMBL389621 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| METHYLPREDNISOLONE | CHEMBL650 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| PREDNISOLONE | CHEMBL131 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| PREDNISONE | CHEMBL635 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
| TRIAMCINOLONE | CHEMBL1451 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 0 | Drugs and targets |
Targets1
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 |
|---|---|---|---|---|---|
| NR3C1 | Glucocorticoid receptor | 8 | Glucocorticoid receptor agonist | Phase 1/2 | https://conductscience.org/library/genes/2908 |
Source Drugs and targets
Trials2
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.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT03517085 | Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa) | Phase 1/2 | 12 | 2022-11-18 | GSD1 | PARIGLASGENE BRECAPARVOVEC | Its record names the disease | ClinicalTrials.gov |
| NCT05139316 | A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa) | Phase 3 | 52 | Glycogen Storage Disease Type IA | PARIGLASGENE BRECAPARVOVEC | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials0
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.
None in this release.
Papers from its trials3
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_0009287
GET https://conductscience.org/api/diseases/v1/MONDO_0009287/drugs