DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for disorder of glycogen metabolism — screening already-approved drugs against its 23-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleDisorder of glycogen metabolism maps to a 23-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
approvedVogliboseAlpha glucosidase inhibitor
Structures already discussed alongside disorder of glycogen metabolism in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
THE CRYSTAL STRUCTURE OF THE alpha-Glucosidase (GH 31) FROM RUMINOCOCCUS OBEUM ATCC 29174 — Voglibose has a real, experimentally solved structure in complex with this target (PDB 6C9X, 1.457 Å). This is the drug's own deposited structure, not a prediction, and confirms it is a structurally characterised molecule rather than an untested guess.
Loading structure…
helix sheet vogdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6C9X · 1.457 Å · ligand Voglibose (VOG). Experimental structure, not a prediction.
What the evidence adds up to
Glycogen storage diseases are a group of inherited metabolic disorders caused by a defect in any one of several enzymes required for glycogen synthesis or degradation. The severity ranges from fatal in infancy if untreated to mild disorders with a normal lifespan. The first symptoms usually appear during the first months of life. The diseases can be divided into those with hepatic involvement, presenting as hypoglycemia, and those associated with neuromuscular disease and weakness. Abnormal glycogen accumulates in tissues such as the liver, muscles, and heart, producing clinical symptoms including hypoglycemia, hepatomegaly, muscle weakness, and heart dysfunction. Each type is caused by deficiency of a specific enzyme, and clinical symptoms vary significantly depending on the affected enzyme and organ systems.
Diagnosis depends on history, physical examination, blood tests, biopsies for related disturbances, and genetic testing where mutations are suspected. Distinguishing the different types is important so that the patient receives the correct treatment. Advances in molecular genetics have improved diagnostic accuracy and enhanced understanding of pathophysiology. However, due to a broad spectrum of unspecific clinical symptoms, many patients remain undiagnosed or have a wrong diagnosis with ineffective treatment. Knowledge and awareness of the problem among physicians seem insufficient, and research on diagnosis and treatment is still ongoing, resulting in a heterogeneous typology and a changing way of diagnosis and treatment.
Current treatment strategies include dietary management, enzyme replacement therapy, and emerging genetic therapies. Challenges relate to treatment adherence and long-term outcomes. One 2025 review states that to even summarize the treatment modalities of the different subgroups was beyond the scope of that study. No concrete numbers for survival, response rates, or sample sizes are reported in any of these abstracts. No drug is mentioned by name in any abstract.
What is still missing are large, well-funded clinical trials that report quantitative outcomes such as survival or response rates. The abstracts do not specify how to stratify patients by GSD type or genetic mutation, nor do they provide evidence for any particular drug or therapy. The field lacks a clear, evidence-based treatment protocol validated by controlled studies, and many patients remain undiagnosed or misdiagnosed.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Translational Science of Rare Diseases · 2016 · 77 citations · open access
Glycogen storage diseases: Diagnosis, treatment and outcome
AbstractThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The GSDs can be divided into those with hepatic involvement, which present as hypoglycemia, and those which are associated with neuromuscular disease and weakness. The severity of the GSDs range from those that are fatal in infancy if untreated to mild disorders with a normal lifespan. The diagnosis, treatment, and prognosis for the common types of GSDs are reviewed.
Archives of Medical Science · 2019 · 17 citations · open access
Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management
AbstractGlycogen storage diseases (GSDs) are genetically determined metabolic diseases that cause disorders of glycogen metabolism in the body. Due to the enzymatic defect at some stage of glycogenolysis/glycogenesis, excess glycogen or its pathologic forms are stored in the body tissues. The first symptoms of the disease usually appear during the first months of life and are thus the domain of pediatricians. Due to the fairly wide access of the authors to unpublished materials and research, as well as direct contact with the GSD patients, the article addresses the problem of actual diagnostic procedures for patients with the suspected diseases. Knowledge and awareness of the problem among physicians seem insufficient, and research on the diagnosis and treatment of GSD is still ongoing, resulting in a heterogeneous GSD typology and a changing way of its diagnosis and treatment.
Glycogen Storage Diseases: Diagnosis, Treatment and Outcome
AbstractThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The GSDs can be divided into those with hepatic involvement, which present as hypoglycemia, and those which are associated with neuromuscular disease and weakness. The severity of the GSDs range from those that are fatal in infancy if untreated to mild disorders with a normal lifespan. The diagnosis, treatment, and prognosis for the common types of GSDs are reviewed.
Prevention of hypoglycaemia in a patient with type Ib glycogen storage disease by an amylase (alpha-glucosidase) inhibitor
AbstractPatients with type Ib glycogen storage disease (GSD Ib) are susceptible to hypoglycaemic episodes. To determine whether an amylase (alpha-glucosidase) inhibitor, voglibose, can be useful in the control of hypoglycaemia, we tried it in a 14-y-old male with GSD Ib. Oral administration of voglibose prolonged the duration of normoglycaemia and reduced the incidence of hypoglycaemia attacks. These findings indicate that voglibose may be useful for preventing hypoglycaemia in GSD Ib patients.
Bratislavské lekárske listy/Bratislava medical journal · 2020 · 3 citations · open access
Inherited metabolic disorders of glycoconjugate metabolism
AbstractInherited metabolic disorders of glycoconjugate metabolism include congenital disorders of glycosylation (CDG) - disorders in biosynthesis of glycoconjugates; and some of the lysosomal storage diseases (LSD) - disorders of their degradation. This review summarizes the brief characteristics of metabolic pathways of synthesis and catabolism of glycoconjugates as well as the latest update of relevant enzymatic defects discovered in population. Every year the number of known subtypes of these disorders dramatically increases as a result of high-throughput analytical infrastructure applied. However, due to the broad spectrum of unspecific clinical symptoms, many patients remain undiagnosed or have wrong diagnosis with ineffective treatment. Thus, disorders of glycoconjugate metabolism should be considered and ruled out in any unexplained syndrome. The collaboration between scientists and physicians plays an important role in the progress of such personalized diagnostics, that is essential mainly for rare diseases (Tab. 2, Fig. 1, Ref. 49). Keywords: congenital disorders of glycosylation, lysosomal storage disorders.
Public Health Weekly Report · 2025 · 0 citations · open access
당원병에 대한 종합적 리뷰: 분자 메커니즘, 진단 및 치료 전략
AbstractGlycogen storage disease (GSD) is a hereditary metabolic disorder caused by defective enzymes involved in carbohydrate metabolism. GSD leads to abnormal glycogen accumulation in tissues, such as the liver, muscles, and heart, resulting in various clinical symptoms, including hypoglycemia, hepatomegaly, muscle weakness, and heart dysfunction. There are several types of GSD. Each type of GSD is caused by a deficiency of a specific enzyme, and its clinical symptoms can vary significantly depending on the affected enzyme and organ systems. Advances in molecular genetics have elucidated the genetic basis of GSD, improving its diagnostic accuracy, and enhancing our understanding of its pathophysiology. This review focused on the molecular mechanisms, clinical symptoms, diagnostic approaches, and current treatment strategies for all types of GSD, including dietary management, enzyme replacement therapy, and emerging genetic therapies. It also addressed challenges relating to treatment adherence, long-term outcomes, and future research directions. Early diagnosis and personalized treatment plans are essential for improving the prognosis of patients with GSD. Continued research to discover more effective treatment options, and ultimately, cure the disease is crucial.
Cellular and Molecular Biology · 2025 · 0 citations · open access
Update on glycogen storage disease: a brief review of the main disorders
AbstractA glycogen storage disease (GSD) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. Several enzymes are required for the processes of glycogenesis and glycogenolysis. Glycogen storage diseases happen when a person doesn't have one or more of these enzymes. GSD in almost all cases is genetic (In exceptional cases, it can be environmental, like GSD in livestock). Genetic GSD results mainly from inborn error in carbohydrate metabolism, where genetically faulty or malfunctioning enzymes or transport proteins are involved. It has many different types and diagnoses depending upon history, physical examinations and more specifically, blood tests and biopsies for related disturbances and genetic testing wherever mutations are being suspected. It is very important to distinguish the different types so that the patient receives the correct treatment. To even summarize the treatment modalities of the different sub-groups was beyond the scope of this study. We hope that it will elucidate better approaches and techniques amongst collaborative team members from the medical fraternity.
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.
