DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital factor V deficiency — 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 moduleCongenital factor V deficiency 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 congenital factor v deficiency 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
fibrinogen alpha chain (FGA) — FGA 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 galdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3GHG · 2.9 Å · ligand beta-D-galactopyranose (GAL). Experimental structure, not a prediction.
What the evidence adds up to
A 1978 study of 56 family members of a 14-month-old girl with severe congenital factor V deficiency found 10 heterozygotes with factor V levels between 26% and 60% of normal; none of those heterozygotes had a bleeding tendency. The inheritance pattern was autosomal recessive with variable expressivity in heterozygotes.
A 2015 case report describes an elderly patient with severe factor V deficiency and a high inhibitor titre, refractory to FEIBA (anti-inhibitor coagulation complex), who was treated with NovoSeven together with cyclosporine and rituximab. The authors note that management of factor V deficiency with inhibitor is based only on case reports and that no consensus guidelines exist.
A 2011 report of prenatal diagnosis for two families with known factor V gene mutations (G16088C and G69969T) used chorionic DNA at 12 weeks. One fetus was a heterozygous carrier of G16088C; its factor V activity was 15% in cord blood and 53% in peripheral blood at six months. The other fetus did not carry G69969T; its factor V activity was 32% in cord blood and 93% in peripheral blood. Both infants were healthy without bleeding tendency. This was the first reported prenatal diagnosis for congenital factor V deficiency.
What is still missing are prospective treatment trials for acute bleeding in severe deficiency, especially when inhibitors are present, and systematic data on the natural history and bleeding risk of heterozygotes across different mutations. No large registry or randomised comparison of bypassing agents exists, and no gene therapy or protein replacement product has been tested in a controlled fashion for this disorder.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Scandinavian Journal of Haematology · 1978 · 8 citations
Congenital Factor V Deficiency
AbstractA 14-month-old girl suffering from a heavy bleeding tendency, caused by a severe isolated congenital factor V deficiency is described. In this study 56 family members were examined. 10 of them had a factor V level ranging 26-60% of the normal--these were classified as heterozygotes. The case histories of the heterozygotes did not reveal a bleeding tendency. The inheritance of this factor V deficiency is autosomal recessive, with varying expressivity in the heterozygotes.
Case Reports in Hematology · 2015 · 4 citations · open access
Refractory Epistaxis due to Severe Factor V Deficiency with Inhibitor
AbstractFactor V deficiency secondary to inhibitors is extremely rare and can be caused by a wide collection of exposures such as bovine thrombin and beta lactamase antibiotics. The management of factor V deficiency with inhibitor is a condition treated based on case reports due to the rarity of this condition. We describe a complicated case of an elderly patient with severe factor V deficiency with high inhibitor titer refractory to FEIBA (anti-inhibitor coagulation complex) treated with NovoSeven concurrently with cyclosporine immunosuppression and Rituxan. Given that there are no consensus guidelines on treatment, this case offers important insight into the therapeutic approaches that can be used to treat such patients.
[Prenatal diagnosis for two families of congenital factor V deficiency].
AbstractOBJECTIVE: To provide genetic consulting and prenatal diagnosis for two families with congenital factor V deficiency based on the known mutations of factor V gene (G16088C and G69969T). METHODS: Chorionic DNA was obtained at 12 weeks of gestation and analyzed to exclude maternal cell contamination through microsatellite DNA analysis. It was then amplified with PCR and sequenced to determine the presence of mutations in exons 3 and 23. Factor V activity of the blood was assayed at 22 weeks of gestation and 6 months after birth. RESULTS: The fetus in case 1 was found to be a heterozygous carrier of the G16088C mutation, for whom factor V activity of the cord blood and peripheral blood were 15% and 53%, respectively. Fetus 2 did not carry the familiar G69969T mutation, for whom the factor V activity of cord blood and peripheral blood has measured 32% and 93%, respectively. Follow-up studies demonstrated that the two infants were both in good health without a tendency for bleeding. CONCLUSION: In both cases, the genotypes were consistent with the phenotypes. This is the first report of prenatal diagnosis of congenital factor V deficiency.
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.
