DeCure for Glycogen storage disease due to glycogen branching enzyme deficiency
DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for glycogen storage disease due to glycogen branching enzyme deficiency — screening already-approved drugs against its 4-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 due to glycogen branching enzyme deficiency maps to a 4-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 due to glycogen branching enzyme deficiency 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
thyroid hormone receptor beta (THRB) — THRB 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 4-phenylphenoxydrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7WMH · 1.97 Å · ligand 2-[[1-methoxy-4-oxidanyl-7-(4-phenylphenoxy)isoquinolin-3-yl]carbonylamino]ethanoic acid (9II). Experimental structure, not a prediction.
What the evidence adds up to
Glycogen storage disease due to glycogen branching enzyme deficiency, also called Andersen disease, amylopectinosis, or GSD4, accounts for about 3% of all glycogen storage diseases. It is described as rare and severe. No specific treatment, drug, or intervention is evaluated in these abstracts. One review notes that some GSDs lead to death within the first year of life in neonatal or infantile forms, while others cause only exercise intolerance; the phenotypic variation is wide even when the same enzyme is mutated. The 2020 best practice guidelines mention treatment methods for liver-involved forms of glycogen storage disease generally, but do not give concrete numbers for survival, response rates, or sample sizes for GSD4.
No clinical trial data, no drug repurposing evidence, and no patient outcomes specific to this enzyme deficiency appear in the provided abstracts. The 2011 review states that prognosis depends on the specific mutation, but does not quantify survival or response for GSD4. The 2020 guidelines describe laboratory, instrumental, and morphological signs and refer to clinical guidelines, but again offer no numerical results.
What is still missing: any clinical trial testing a drug for this condition, any patient-level outcome data (survival, response rate, sample size), and any evidence that a specific compound alters disease course. A trial design with defined endpoints and patient stratification by mutation type would be needed before any drug could be assessed.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Ultrastructural Pathology · 2011 · 148 citations
Glycogen Storage Diseases: A Brief Review and Update on Clinical Features, Genetic Abnormalities, Pathologic Features, and Treatment
AbstractGlycogen storage diseases (GSD) affect primarily the liver, skeletal muscle, heart, and sometimes the central nervous system and the kidneys. These unique diseases are quite varied in age of onset of symptoms, morbidity, and mortality. Glycogen storage diseases are classified according to their individual enzyme deficiency. Each of these enzymes regulates synthesis or degradation of glycogen. Interestingly, there is great phenotypic variation and variable clinical courses even when a specific enzyme is altered by mutation. Depending on the specific mutation in an enzyme, a GSD patient may have a favorable or unfavorable prognosis. With neonatal or infantile forms, some GSDs lead to death within the first year of life, whereas other glycogen storage diseases are relatively asymptomatic or may cause only exercise intolerance. The paper provides a brief review and update of glycogen storage diseases, with respect to clinical features, genetic abnormalities, pathologic features, and treatment.
Педиатрическая фармакология · 2020 · 4 citations · open access
Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines
AbstractGlycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in liver and muscles) occurs due to enzyme defects. The authors present recent epidemiological data and features of glycogen storage disease etiology and pathogenesis. Clinical characteristics of different types of this disease are also presented. The data on laboratory-instrumental and morphological signs of glycogen storage disease in children, as well as data on its treatment methods is provided in accordance with the developed clinical guidelines. The article provides relevant information on disease types with predominant liver involvement, besides the variety of clinical forms of glycogenosis.
Glycogen storage disease due to glycogen branching enzyme deficiency
AbstractOpe n Pe e r Re v ie w on Qe ios Ope n Pe e r Re v ie w on Qe ios Glycogen storage disease due to glycogen branching enzyme deficiency INSERM Source INSERM.(1999).Orphanet: an online rare disease and orphan drug data base.Glycogen storage disease due to glycogen branching enzyme deficiency.ORPHA:367Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).
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.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
