DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial hypocalciuric hypercalcemia 2 — 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 moduleFamilial hypocalciuric hypercalcemia 2 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 familial hypocalciuric hypercalcemia 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
G protein subunit alpha 11 (GNA11) — GNA11 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 gtpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9P8A · 3.7 Å · ligand GUANOSINE-5'-TRIPHOSPHATE (GTP). Experimental structure, not a prediction.
What the evidence adds up to
Familial hypocalciuric hypercalcemia type 2 is one of the genetically determined variants of primary hyperparathyroidism, usually caused by heterozygous inactivating mutations in the extracellular calcium-sensing receptor. Most such mutations are missense. At least two other FHH genes exist but have not yet been identified. The condition is inherited and based on dysfunction of the calcium receptor or its associated partner proteins.
FHH usually has a benign course, and patients do not require treatment. Clinical manifestations are typically absent, though classic symptoms of hypercalcemia may occur in some cases. Recent evidence suggests the prevalence of this condition may be comparable to that of primary hyperparathyroidism. One report describes a patient with FHH who developed end-stage renal disease from another cause and received a living related donor kidney transplant from her FHH-affected daughter; the post-transplant course of both recipient and donor was excellent.
Neonatal severe hyperparathyroidism is a severe disorder often requiring early parathyroidectomy for young patients to survive. Timely differential diagnosis of FHH avoids unnecessary and expensive instrumental examination as well as ineffective treatment. The clinical cases presented in one publication demonstrate unjustified difficulties in diagnosis and the necessity to raise physician awareness about FHH.
What is still missing: identification of the additional FHH genes, prospective data on the true prevalence of FHH compared to primary hyperparathyroidism, and any controlled trials of interventions given that most patients require no treatment. No drug therapy is 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.
Frontiers of hormone research · 2018 · 23 citations
Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism
AbstractFamilial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) are genetically determined variants of primary hyperparathyroidism. FHH usually has a benign course, and patients do not require treatment, whereas NSHPT is a severe disorder often requiring early parathyroidectomy for young patients to survive. Recent discoveries in the genetic basis and new findings in therapeutic approaches have led to a great interest in these rare diseases.
Problems of Endocrinology · 2022 · 2 citations · open access
Syndrome of hypocalсiuric hypercalcemia. Is it rare? Two clinical cases in an outpatient clinic
AbstractHypocalciuric hypercalcemia syndrome (familial hypocalciuric hypercalcemia, FHH) is an inherited condition based on dysfunction of the calcium receptor or its associated partner proteins. Recent evidence suggests that the prevalence of this condition may be comparable to that of primary hyperparathyroidism. Clinical manifestations of FHH are usually absent; however the classic symptoms of hypercalcemia may be present in some cases. Timely differential diagnosis of FHH avoids unnecessary and expensive instrumental examination, as well as ineffective treatment. The clinical cases presented in this publication demonstrate the unjustified difficulties in this issue and the necessity to raise the awareness of physicians about the familial hypocalciuric hypercalcemia.
Current Opinion in Endocrinology & Diabetes · 1997 · 2 citations
Familial hypocalciuric hypercalcemia
AbstractFamilial hypocalciuric hypercalcemia (FHH) is usually caused by inactivating mutations in the extracellular calcium-sensing receptor. Most such mutations are missense. Expression studies of mutant receptors are now more precisely characterizing the nature of the signaling defect caused by these mutations. Reports of additional patients with FHH and neonatal severe hyperparathyroidism and their associated caiciumsensing receptor defects are expanding our understanding of the clinical spectrum of these diseases as well as adding to structure function information about the calcium-sensing receptor. At least two other FHH genes exist. They have yet to be identified.
American Journal of Transplantation · 2007 · 0 citations · open access
Familial Hypocalciuric Hypercalcemia in the Donor and Recipient of a Living Related Donor Kidney Transplant
AbstractFamilial hypocalciuric hypercalcemia (FHH) is caused by heterozygous inactivation of the calcium-sensing receptor, which is notably expressed in parathyroid and kidney. FHH is characterized by asymptomatic hypercalcemia and hypophosphatemia and confers minimal, if any, morbidity. Renal transplantation in patients with FHH has not been described previously. This report describes a patient with FHH who developed end-stage renal disease from another cause and subsequently received a living related donor kidney transplant from her FHH-affected daughter. The excellent posttransplant clinical course of both recipient and donor is emphasized.
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.
