DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for glycogen storage disease V — 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 V 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 v 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
glycogen phosphorylase, muscle associated (PYGM) — PYGM 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 ampdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1Z8D · 2.3 Å · ligand ADENOSINE MONOPHOSPHATE (AMP). Experimental structure, not a prediction.
What the evidence adds up to
A 2017 review of pharmacological approaches for glycogen storage diseases that involve polyglucosan body accumulation—including Adult Polyglucosan Body Disease, Andersen Disease, Tarui Disease and Lafora Disease—concluded that pharmacological therapy should be the leading therapeutic strategy. The review described structure-based drug development, modulation of affinity and specificity, multi-targeting, and image-based high-throughput screening as methodological platforms. It identified glycogen synthase, glycogen metabolising enzymes, and inclusion bodies as drug targets. No clinical trial data or patient outcomes were reported in that review.
A 2024 mixed-methods study assessed the burden of disease in glycogen storage disease type III, not type V. A 2022 systematic review investigated the effectiveness of exercise training in glycogen storage diseases but did not report results specific to type V. A 1963 notice requested referral of patients with any form of glycogen storage disease for a study at the National Institutes of Health, and a 1965 Swedish survey of all known or suspected cases found a minimum incidence of 1 per 246,000 live births across all types, with 13 definite or highly probable cases identified among 35 suspected cases. Neither of these historical reports addressed treatment for type V.
No abstract provided here reports any clinical trial, any tested drug, or any outcome for glycogen storage disease type V. The 2017 review is the only abstract that discusses potential treatments, and it does so only in general terms for a group of diseases that includes Tarui Disease (type V), without presenting data from any completed experiment or patient series. What is missing is any clinical trial that tests a specific drug in patients with glycogen storage disease type V, any funding for such a trial, and any patient stratification that would allow a trial to detect a treatment effect.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Expert Opinion on Orphan Drugs · 2017 · 1 citations
Pharmacological approaches for treating glycogen storage disorders involving polyglucosan body accumulation
AbstractIntroduction: Glycogen storage disorders (GSDs) are mainly caused by over-accumulation of normal or malconstructed glycogen. A few GSDs, Adult Polyglucosan Body Disease (APBD), Andersen Disease, Tarui Disease and Lafora Disease are also associated with pathogenic inclusion bodies called polyglucosan bodies (PB) consisting of malconstructed glycogen (polyglucosan) in complex with several enzymes of glycogen metabolism. A treatment for GSDs is urgently required. This review examines the pharmacological avenue for curing PB-involving GSDs.Areas covered: I describe here the pros and cons of the structure-based drug development approach. This functional module-based approach can generate efficacious drugs, but with a large pleiotropic potential. Solutions based on modulations of affinity and specificity of putative drugs and on multi-targeting are then described. Next I discuss the targets of GSD pharmacological therapy: glycogen synthase (GYS), glycogen metabolizing enzymes and inclusion bodies. Finally, image-based high-throughput screening (HTS) is described as a methodological platform for PB-involving GSD drug discovery.Expert opinion: The conclusion of this review is that the pharmacological approach should be the leading therapeutic strategy for curing PB-involving GSDs. This approach enables broad characterization of underlying causes of PB-involving GSDs, an exhaustive examination of multiple mechanistic strategies for therapy and fast translational potential.
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
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
Sage Journals Data · 2022 · 0 citations · open access
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
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.
AbstractSUMMARY An attempt was made to trace all known or suspected cases of glycogen storage disease in Sweden. 1. Totally 35 such cases are discussed; 20 of them could be studied with biochemical and enzymic methods. In an additional 3 patients the diagnosis could be evaluated, since a sib with similar symptoms was investigated. Nine patients were dead without any material having been saved. In three patients, still alive, no new examination could be made. 2. Seven of the patients studied were considered to have a definite glycogen storage disease. In 6 of the cases not studied by the author, glycogenosis was considered to be proved by other investigators. Of the 13 patients thus found with definite or highly probable glycogenosis, 8 belonged to type 1 glycogenosis (in 3 cases the type diagnosis is only tentative), 1 (tentatively) to type 2, 1 (tentatively) to type 3 and 2 (1 proved, 1 tentatively) to type 6. In one case no type diagnosis is suggested. 1 The criteria for the diagnosis in these 13 cases are discussed. 3. In 10 cases studied, it was considered possible to exclude the suspected type or all known types of glycogen storage disease. 4. The minimum incidence of known cases of all types of glycogen storage disease in Sweden is calculated to be 1: 246,000 live births. 5. The various current diagnostic possibilities are discussed, and the value of clinical, clinical‐chemical, histological, biochemical and enzymic procedures is surveyed. The advantages and drawbacks of modern diagnostic assays on corpuscular elements of the blood are described. It is stressed that these new methods have not made unnecessary the utilization of other diagnostic procedures.
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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