DeCure for Hypoparathyroidism, familial isolated 1
DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for hypoparathyroidism, familial isolated 1 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHypoparathyroidism, familial isolated 1 maps to a 2-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 hypoparathyroidism, familial isolated 1 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.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Medical Genetics · 1981 · 13 citations · open access
Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.
AbstractIn this paper we report an extended family with well documented autosomal dominant hypoparathyroidism which was ascertained through a proband with coincident nephrogenic diabetes insipidus. Clinical findings were limited to a slight decrease in overall stature and to clinical signs of hypocalcaemia. Intelligence was normal and two patients were asymptomatic. Published reports have established that autosomal dominant, autosomal recessive, and sex linked recessive familial isolated hypoparathyroidism exist. However, in almost half the reported families an X linked dominant aetiology cannot be excluded and, at present, clinical criteria provide only minimal aid in distinguishing between the different genetic types. There remains a need for detailed documentation of further families were the pattern of inheritance is clear.
Frontiers in Endocrinology · 2025 · 0 citations · open access
A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report
AbstractGlial cells missing transcription factor 2 ( GCM2 ) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function variants, with only a limited number of heterozygous variants reported. A 24-year-old woman with recurrent tonic convulsions was admitted to our hospital. Laboratory findings revealed severe hypocalcemia (1.28 mmol/L), normophosphatemia (1.36 mmol/L), and low intact parathyroid hormone levels (0.84 pmol/L). Based on this, hypoparathyroidism was diagnosed. Comprehensive gene analysis using next-generation sequencing revealed a novel heterozygous frameshift pathogenic variant (c.1366delG, p.Ala456ProfsTer75) in the GCM2 gene (NM_004752.4). Sanger sequencing of the patient and parents confirmed de novo occurrence. This variant is predicted to exert a dominant-negative effect by impairing GCM2 function. This case provides further evidence that heterozygous GCM2 variants can lead to hypoparathyroidism. Additionally, it underscores the importance of genetic testing for hypoparathyroidism of unknown etiology even in adults.
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.
