DeCure for Vitamin K-dependent clotting factors, combined deficiency of, type 1
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for vitamin K-dependent clotting factors, combined deficiency of, type 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 moduleVitamin K-dependent clotting factors, combined deficiency of, type 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 vitamin k-dependent clotting factors, combined deficiency of, type 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.
Molecular view
methionine adenosyltransferase 2A (MAT2A) — MAT2A 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 samdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7RWG · 0.97 Å · ligand S-ADENOSYLMETHIONINE (SAM). Experimental structure, not a prediction.
What the evidence adds up to
Combined deficiency of vitamin K-dependent clotting factors type 1 is an extremely rare congenital bleeding disorder, with only a few cases described worldwide. The condition results from point mutations in the gamma-glutamylcarboxylase gene (GGCX), producing defective gamma-carboxylation of clotting factors II, VII, IX, and X, as well as proteins C, S, and Z. Bleeding severity ranges from mild to severe. The disorder requires differential diagnosis from vitamin K deficiency bleeding of the newborn and coagulopathy associated with liver disease.
The world practice for treating this haemorrhagic condition is the use of vitamin K1 and prothrombin complex concentrate. Therapy includes high oral doses of vitamin K for prophylaxis, which usually results in only partial correction of factor deficiency, and episodic use of plasma infusions. Two case reports describe the clinical manifestations, diagnosis, and specific treatment in patients with this bleeding disorder, but no quantitative outcomes such as survival or response rates are provided in the available abstracts.
Vitamin K deficiency in newborns who do not receive timely intervention can lead to potentially life-threatening bleeding disorders termed vitamin K deficiency bleeding (VKDB). The abstracts note that vitamin K deficiency is a frequently overlooked condition affecting blood clotting, bone metabolism, and cardiovascular health, but these observations concern general deficiency rather than the congenital combined deficiency.
What is still missing are large-scale clinical data on treatment outcomes, standardised dosing protocols for vitamin K and prothrombin complex concentrate in this specific congenital disorder, and molecular studies that could identify targets for more effective therapies. The extreme rarity of the condition makes prospective trials difficult without international collaboration and dedicated funding for registry-based research.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Zenodo (CERN European Organization for Nuclear Research) · 2024 · 0 citations · open access
Vitamin K Deficiencies Along with VKDB as well as VKCF and Assessment of Vitamin K with the Help of Markers Namely Pivka- Ii to Diagnose Deficiency as Well as its Severity
AbstractVitamin K deficiency, a frequently overlooked condition, influences health across various physiological domains in a significant manner. Being a group of fat-soluble compounds, vitamin K plays an important role in essential processes namely blood clotting, bone metabolism as well as cardiovascular health. The absence of vitamin K in the human body can lead to spectrum of complications such as bleeding disorders, impaired bone development, and potential cardiovascular risks. Understanding the intricate interplay between vitamin K and these fundamental physiological functions is critical for especially healthcare professionals. Vitamin K deficiency in newborns contributes a distinct and critical concern within the realm of pediatric health care. Newborns with limited vitamin K reserves who do not receive timely intervention are prone to getting potentially life-threatening bleeding disorders, termed as Vitamin K deficiency bleeding (VKDB). One uncommon congenital bleeding condition that affects newborns is hereditary combined deficit of vitamin K-dependent clotting factor (VKCFD). This exercise describes vitamin K deficiency's origin, clinical signs, diagnostic techniques, and practical management tactics. This activity also highlights the importance of an interprofessional healthcare team especially in delivering comprehensive patient care.
Pediatric Hematology/Oncology and Immunopathology · 2022 · 0 citations · open access
Congenital combined vitamin K-dependent clotting factors deficiency: case reports
AbstractCongenital combined vitamin K-dependent clotting factors deficiency is an extremely rare bleeding disorder, a few cases have been described worldwide. This coagulopathy requires a differential diagnosis with vitamin K deficiency bleeding of the newborn and coagulopathy, associated with different liver disease. The world practice of treating this hemorrhagic condition is the use of vitamin K 1 (not registered in the Russian Federation), as well as a prothrombin complex concentrate. This article describes the clinical manifestations, diagnosis and specific treatment in 2 patients with this bleeding disorder. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.
AbstractCombined deficiency of vitamin K–dependent clotting factors II, VII, IX, and X (and proteins C, S, and Z) is usually an acquired clinical problem, often resulting from liver disease, malabsorption, or warfarin overdose. A rare inherited form of defective γ-carboxylation resulting in early onset of bleeding was first described by McMillan and Roberts in 1966 and subsequently has been termed vitamin K–dependent clotting factor deficiency (VKCFD). Biochemical and molecular studies identify 2 variants of this autosomal recessive disorder: VKCFD1, which is associated with point mutations in the γ-glutamylcarboxylase gene (GGCX), and VKCFD2, which results from point mutations in the vitamin K epoxide reductase gene (VKOR). Bleeding ranges in severity from mild to severe. Therapy includes high oral doses of vitamin K for prophylaxis, usually resulting in partial correction of factor deficiency, and episodic use of plasma infusions. Recent molecular studies have the potential to further our understanding of vitamin K metabolism, γ-carboxylation, and the functional role this posttranslational modification has for other proteins. The results may also provide potential targets for molecular therapeutics and pharmacogenetics.
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.
