DeCure for Lethal congenital glycogen storage disease of heart
DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for lethal congenital glycogen storage disease of heart — 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 moduleLethal congenital glycogen storage disease of heart 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 lethal congenital glycogen storage disease of heart 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.
What the evidence adds up to
In a 1986 series of five infants with Pompe disease (glycogen storage disease type II), all presented with generalised hypotonia and respiratory tract infections, and all had clinical signs of cardiac failure, cardiomegaly on chest X-ray, short PR intervals, and severe left or biventricular hypertrophy on electrocardiogram. Four of the five diagnoses were confirmed by skeletal muscle biopsy and enzymatic assay of alpha-1,4-glucosidase. Four of the five infants died during follow-up, with a mean age at death of 7.5 months. A 1974 report notes that since 1963 the authors’ institution had seen 21 children with the disease, describing it as characterised by severe muscle weakness, moderate hepatomegaly, and substantial cardiac enlargement in an infant who appeared healthy at birth. The condition is inherited in an autosomal recessive fashion, and carriers are clinically healthy but can be distinguished from genotypically normal siblings by assay of lysosomal acid alpha-glucosidase.
A 1999 case report emphasises that Pompe disease should be considered in cases of unexplained infantile cardiomyopathy, describing massive lysosomal accumulation of glycogen in the heart and other tissues as the cause of severe hypertrophic cardiomyopathy leading to sudden death. No therapeutic intervention is reported in any of these three abstracts; they are purely descriptive of the natural history and diagnostic features.
A 2020 report describes a separate, extremely rare glycogen storage disease due to glycogenin deficiency (glycogen storage disease type 15), reported in one patient to date. That patient had muscle weakness, cardiac arrhythmia, accumulation of abnormal storage material in the heart, and glycogen depletion in skeletal muscle. This is a different molecular entity from Pompe disease and does not involve acid alpha-glucosidase deficiency.
What remains missing is any controlled trial of a drug for either condition, any evidence of survival benefit from any intervention, and any patient stratification beyond the broad distinction between infantile Pompe and the glycogenin-deficiency form. Funding for enzyme replacement therapy trials in Pompe disease exists elsewhere but is not mentioned in these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Pacing and Clinical Electrophysiology · 1999 · 26 citations
<b>An Interesting Case of Infant Sudden Death:</b> Severe Hypertrophic Cardiomyopathy in Pompe's Disease
AbstractGlycogen storage disease type II (Pompe's disease) is a rare inherited metabolic disorder, which often leads to infantile death from severe cardiomyopathy. This case of sudden death illustrates the features of the cardiac findings in the disorder, resulting from massive lysosomal accumulation of glycogen in the heart and other tissues. Pompe's disease should be considered in cases of unexplained infantile cardiomyopathy.
Japanese Heart Journal · 1986 · 16 citations · open access
Clinical analysis of five infants with glycogen storage disease of the heart-Pompe's disease.
AbstractFive cases of infant glycogen storage disease of the heart are reported. Their ages ranged from 2 to 7 months. They all presented with generalized hypotonia and respiratory tract infections. Four of the diagnosis were proven by skeletal muscle biopsy and enzymatic assay of alpha-1,4-glucosidase. All 5 infants had clinical signs of cardiac failure, cardiomegaly shown by chest X-ray, short PR intervals, severe left or bi-ventricular hypertrophy shown on electrocardiograms, increased thickness of the right and left ventricular walls and interventricular septum both on M-mode and two-dimensional echocardiograms and angiocardiograms. Four of them died during the follow-up period with a mean age at death of 7.5 months.
Archives of Pediatrics and Adolescent Medicine · 1974 · 10 citations
Enzyme Therapy and Prenatal Diagnosis in Glycogenosis Type II
AbstractGlycogen storage disease type II (GSD II) is characterized clinically by severe muscle weakness, moderate hepatomegaly, and substantial cardiac enlargement in an infant who appeared "healthy" at birth (see page 622). Hypotonia and cardiomegaly are so extreme that they cannot be missed. This ease of recognition and a new awareness of the existence of the disease explain the apparent increase in the number of cases. Since 1963 when the first patient was recorded at our institution, we have seen 21 children with the disease. Because of the greatly enlarged heart, the condition is also known as cardiac glycogenosis, but generalized GSD is a more adequate term because the glycogen concentration is abnormally increased in every organ examined to date. Type II GSD is inherited in an autosomal recessive fashion. Carriers are clinically healthy but can be separated from their genotypically normal siblings by the assay of lysosomal acid α-glucosidase in
Glycogen storage disease with severe cardiomyopathy due to glycogenin 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 with severe cardiomyopathy due to glycogenin deficiency INSERM Source INSERM.(1999).Orphanet: an online rare disease and orphan drug data base.Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency. ORPHA:263297Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date.Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
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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