DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for glycogen storage disease VII — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleGlycogen storage disease VII maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for glycogen storage disease vii is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
phosphofructokinase, muscle (PFKM) — PFKM is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4OMT · 6.0 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
No abstract in this set reports a treatment trial for glycogen storage disease VII. The 1979 radiographic study of 63 patients with various glycogen storage diseases describes findings by type: type I showed hepatomegaly with hepatic dysfunction, renomegaly with increased renal calculi, and osteopenia; these changes were less pronounced in types III, IV, and VI; type II displayed cardiac or skeletal muscle glycogen deposition. The 2025 case report of glycogen storage disease type Ia describes a patient with hypoglycemia considered as floppy infant syndrome, noting the disorder is caused by G6PC mutation and characterised by hepatomegaly, hypoglycaemia, hyperlactataemia, growth delay, hyperlipidemia, and hyperuricaemia. Neither abstract addresses glycogen storage disease VII specifically.
The 1963 notice requests physician referral of patients with any form of glycogen storage disease to a National Institutes of Health study, stating diagnosis should be established by enzymatic assays of liver and muscle tissue obtained by surgical biopsy. The 2022 systematic review on exercise training in glycogen storage diseases is referenced only by its supplemental material titles; no results are provided in the abstracts given. The 2024 mixed-methods study on glycogen storage disease type III burden is likewise referenced only by its supplemental material title, with no data extractable.
What is missing for glycogen storage disease VII specifically: any published clinical trial data, any drug tested in patients with this subtype, any patient-reported outcomes or survival statistics, and any evidence that exercise or dietary interventions have been evaluated in this population. No abstract mentions a drug by name for any glycogen storage disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Roentgenology · 1979 · 33 citations
Radiography of glycogen storage diseases
AbstractSixty-three patients with glycogen storage disease were evaluated. Findings on plain film examinations, excretory urography, barium gastrointestinal studies, ultrasonography, and angiography were categorized by type of glycogen storage disease. In type I findings include hepatomegaly with hepatic dysfunction, renomegaly with an increased incidence of renal calculi, and osteopenia with various associated osseous abnormalities. These changes were less pronounced in types III, IV, and VI. Type II displayed either cardiac or skeletal muscle glycogen deposition. Correlation with postmortem examination in 14 individuals is given.
Sage Journals Data · 2024 · 0 citations · open access
sj-docx-1-tae-10.1177_20420188231224233 – Supplemental material for Glycogen storage disease type III: a mixed-methods study to assess the burden of disease
AbstractSupplemental material, sj-docx-1-tae-10.1177_20420188231224233 for Glycogen storage disease type III: a mixed-methods study to assess the burden of disease by Ayla Evins, Jill Mayhew, Tricia Cimms, Julie Whyte, Kathy Vong, Elizabeth Hribal, Christopher J. Evans and Andrew Grimm in Therapeutic Advances in Endocrinology and Metabolism
AbstractThe continued co-operation of physicians is requested in the referral of patients with glycogen storage disease for a study currently in progress at the Clinical Center, National Institutes of Health, Bethesda, Maryland. Patients known or suspected of having one of the forms of glycogen storage disease are needed for further study of metabolic errors leading to this group of disorders and for the elaboration of methods for the prevention and treatment of these conditions. It is desirable that the diagnosis be established by means of enzymatic assays of liver and muscle tissue obtained by surgical biopsy.
sj-xlsx-1-trd-10.1177_26330040221076497 – Supplemental material for A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases
AbstractSupplemental material, sj-xlsx-1-trd-10.1177_26330040221076497 for A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases by Claire Bordoli, Elaine Murphy, Ian Varley, Graham Sharpe and Philip Hennis in Therapeutic Advances in Rare Disease
sj-docx-1-trd-10.1177_26330040221076497 – Supplemental material for A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases
AbstractSupplemental material, sj-docx-1-trd-10.1177_26330040221076497 for A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases by Claire Bordoli, Elaine Murphy, Ian Varley, Graham Sharpe and Philip Hennis in Therapeutic Advances in Rare Disease
Floppy infant syndrome in glycogen storage disease type Ia in a patient in the first year of life
AbstractGlycogen storage disease type Ia is an autosomal recessive disorder caused by a mutation in the G6PC gene. It is characterized by excessive glycogen accumulation in the liver, kidneys and intestinal mucosa. The clinical presentation of glycogen storage disease type Ia includes hepatomegaly, hypoglycemia, hyperlactatemia, growth delay, a typical “doll-like” face, hyperlipidemia, and hyperuricemia. This article presents a clinical case of glycogen storage disease type Ia with hypoglycemia, considered as floppy infant syndrome. Key words: glycogen storage disease type Ia, glycogenosis type Ia, hepatomegaly, hypoglycemia, diet therapy, floppy infant syndrome
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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