DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for glycogen storage disease IXd — 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 IXd 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 ixd 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
phosphorylase kinase regulatory subunit alpha 1 (PHKA1) — PHKA1 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 fardrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8XYA · 2.7 Å · ligand FARNESYL (FAR). Experimental structure, not a prediction.
What the evidence adds up to
Three siblings, a boy and two girls, presented with clinical, laboratory, and morphologic findings suggestive of glycogen storage disease type IXa, but had increased glycogen content in both liver and muscle, and reduced phosphorylase kinase activity in liver, muscle, erythrocytes, and leukocytes. This was labelled as GSD type IXc in 1982. Glycogen storage disorder type IX is now classified into subtypes: IXa is X-linked, while IXb and IXc are autosomal recessive, resulting from pathogenic variants in the genes encoding the phosphorylase b kinase regulatory subunits alpha (PHKA), beta (PHKB), and gamma (PHKG2), respectively. The 2024 review notes that despite progress, unclear questions remain regarding clinical manifestations, genetic variations, and the relationship between genotype and phenotype. Diagnosis is based on clinical manifestations and laboratory tests, but molecular analysis is often necessary to distinguish the various forms with similar presentations.
No treatment data, no survival statistics, no response rates, and no sample sizes beyond the three siblings in the 1982 report are provided in these abstracts. The 2020 abstract concerns glycogen debranching enzyme deficiency (GSD type 3), not GSD IXd, and is therefore irrelevant to this disease. The 2024 review does not report any therapeutic intervention or outcome.
What is still missing is any clinical trial data, any systematic natural history study for GSD IXd specifically, any validated patient stratification by genotype, and any funding for a dedicated treatment study. The abstracts provide no evidence of efficacy for any drug.
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 diseases of children · 1982 · 27 citations
A New Variant of Glycogen Storage Disease
AbstractThree siblings, a body and two girls, had clinical, laboratory, and morphologic findings that were suggestive of glycogen storage disease (GSD) type IXa. Patients of both sexes with phosphorylase kinase (PK) deficiency usually have an excessive glycogen content only in the liver and normal glycogen content and PK activity in muscle. The siblings in this study had an increased glycogen content in the liver but also in muscle and reduced PK activity in liver, muscle, erythrocytes, and leukocytes. This condition should be labeled as GSD type IXc.
Orphanet Journal of Rare Diseases · 2024 · 7 citations · open access
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution
AbstractGlycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG), respectively. Despite progress in understanding these diseases, there are still unclear questions regarding their clinical manifestations, genetic variations, and the relationship between genotype and phenotype. Therefore, this review focuses on variants of GSD IX subtypes and all clinical findings to establish a genotype-phenotype relationship as well as highlighting the wide spectrum of disease-causing variants. Such information is beneficial for the establishment of a privileged mutation screening process in a specific region or ethnic group. Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distinguish the various forms with similar presentations.
Glycogen storage disease due to glycogen debranching 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 debranching enzyme deficiency INSERM Source INSERM.(1999).Orphanet: an online rare disease and orphan drug data base.Glycogen storage disease due to glycogen debranching enzyme deficiency.ORPHA:366 Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.
Glycogen storage disease due to acid maltase deficiency, infantile onset
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 acid maltase deficiency, infantile onset INSERM Source INSERM.(1999).Orphanet: an online rare disease and orphan drug data base.Glycogen storage disease due to acid maltase deficiency, infantile onset.ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties.It is often fatal.
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.
