DeCure for Hyperinsulinemic hypoglycemia, familial, 2
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hyperinsulinemic hypoglycemia, familial, 2 — screening already-approved drugs against its 5-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHyperinsulinemic hypoglycemia, familial, 2 maps to a 5-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 hyperinsulinemic hypoglycemia, familial, 2 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
glucokinase (GCK) — GCK 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 2rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4DCH · 1.79 Å · ligand (2R)-3-cyclopentyl-2-[4-(methylsulfonyl)phenyl]-N-(1,3-thiazol-2-yl)propanamide (4DC). Experimental structure, not a prediction.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
New England Journal of Medicine · 1997 · 222 citations · open access
Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy and Mutations in the Sulfonylurea Receptor
Abstract[1st paragraph] Persistent hyperinsulinemic hypoglycemia of infancy is caused by inappropriate and excessive secretion of insulin. Although the disease is rare in outbred communities (approximately 1 case per 50,000 persons), the incidence is approximately 1 per 2500 in inbred Arabic communities in which there is a familial (autosomal recessive) form of the disease. The disease most commonly presents with severe hypoglycemia a few hours after birth, although some cases present after several weeks or months. Some patients have a response to treatment with diazoxide or somatostatin, but others require partial pancreatectomy to control the hyperinsulinism.
Subtotal Pancreatectomy in Diazoxide-UnresponsiveCongenital Hyperinsulinism Without IdentifiablePathogenic Variants in Canonical HI Genes: A CaseReport
AbstractCongenital hyperinsulinism (CHI) is the leading cause of persistent hypoglycemia in neonates. We describe a male newborn with macrosomia who developed severe, recurrent hypoglycemia within the first hours of life. Laboratory evaluation confirmed hyperinsulinemia with suppressed ketone bodies and free fatty acids, and PET-CT with 6Ga-DOTATOC revealed no focal lesion. Whole-exome sequencing (WES) did not identify pathogenic variants in the canonical CHI genes, placing this patient within the subset of genetically unresolved cases of severe, diazoxide-unresponsive disease. A heterozygous variant in AUTS2 (c.3419C>A; p.Arg1140Gln) was detected as part of the broader analysis, but it has no known relationship to insulin secretion. Despite therapy with diazoxide, octreotide, and glucocorticoids, hypoglycemia remained refractory, and subtotal pancreatectomy (95%) was performed at 18 months of age. The patient subsequently achieved sustained euglycemia without medication. At two years of age, he exhibited normal growth, preserved exocrine pancreatic function, and exclusive oral feeding. Neurological follow-up identified autism spectrum disorder, compatible with the known spectrum of AUTS2-related neurodevelopmental findings. This case underscores the clinical and diagnostic challenges of diffuse, diazoxide-unresponsive CHI without identifiable pathogenic variants, highlighting the limitations of WES and the importance of expanded genomic evaluation in unresolved cases.
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.
