DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital factor X deficiency — 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 moduleCongenital factor X deficiency 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 congenital factor x 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.
What the evidence adds up to
Congenital factor X deficiency is an autosomal recessive coagulation disorder with an estimated incidence of 1 in 1,000,000, and an eightfold to tenfold increase in populations with consanguineous marriage. The clinical presentation depends on the residual factor X level and ranges from asymptomatic to grade III severe spontaneous bleeding including haematomas, haemarthrosis, and central nervous system, umbilical cord, and gastrointestinal bleeding. A 2009 review noted that factor X deficiency was first described in 1956–1957, and that several variants have since been reported, with the factor X Friuli abnormality being the most extensively studied. In patients with a peculiar defect affecting only the extrinsic system, factor X levels measured by that system were 4.2% in one patient, 2–3% in another, and 26–34% in one family, indicating that the abnormality can present in severe or moderate forms. The review stated that no immunological assay was reported for one of these patients, making a sure classification impossible.
A 2015 case report described a term newborn who developed a life-threatening bleeding event on the first day of life due to factor X deficiency. Fresh frozen plasma and factor X intravenous replacement therapy normalised the coagulation test. Genetic analysis identified two novel mutations, c.517G>T and c.139delG, in a heterozygous state in the proband, confirmed in the parents. The patient was followed for six years on prophylactic replacement therapy. The authors stated that the description of these two novel mutations and the long follow-up help increase knowledge of genotype-phenotype correlation and provide information on managing replacement therapy in patients with similar mutations.
A 2018 case report described a pregnant patient with homozygous factor X deficiency. The authors noted that the condition is extremely rare and heterogeneous. No specific survival or response rates were reported in any of these abstracts. The 2009 review explicitly noted that the absence of an immunological assay in one patient prevented a sure classification, and the 2015 and 2018 reports are single cases, not controlled trials. What is still missing are prospective registries or trials large enough to stratify patients by genotype and residual factor level, standardised immunological assays to allow consistent classification, and systematic data on long-term outcomes of prophylactic replacement therapy across different mutations.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Acta Haematologica · 2009 · 18 citations · open access
Tentative and Updated Classification of Factor X Variants
AbstractRecent studies from several laboratories seem to justify the proposal of a tentative updated classifica tion of congenital factor X defects [2,4, 11, 15]. Factor X deficiency was first described in 1956-1957 [1, 13, 17], Since that time, several variants have been described. The factor X Friuli abnormality ap pears to be the most important and the most exten sively studied [5-8]. Recently, a peculiar factor X defect with a normal partial thromboplastin time (PTT) was described both sporadically [2, 15] and on a congenital basis [11], Factor X level, by extrinsic system, was 4.2% in the patient presented by Nora et al. [15], 2-3% in the pa tient seen by Bertina [2] and 26-34% in the family studied by us [11]. This indicates that the abnormality responsible for the peculiar activation pattern with a defect only in the extrinsic system may present itself in different forms, severe or moderate. Unfortunately, no immunological assay is reported for the patient by Nora et al. [15], and this makes a sure classification impossible [4, 8].
AbstractFactor X congenital deficiency is a rare coagulation disorder involving autosomal recessive transmission. The clinical situation depends on the extent of the defect and may appear at any age. We report a case of a term newborn who developed a life-threatening bleeding event on the first day of life because of a Factor X (FX) deficiency. Fresh frozen plasma and FX intravenous replacement therapy were administered with normalization of the coagulation test. Genetic analysis identified two novel mutations (c.517G>T; c.139delG) in heterozygous state in the proband that were confirmed in the parents. We also describe a 6-year follow-up during which the patient has been administered prophylactic replacement therapy. The description of these two novel mutations and the long clinical follow-up help to increase our knowledge of the genotype-phenotype correlation of congenital FX deficiency, and provide information on better ways of managing the replacement therapy in patients with similar mutations.
A rare presentation of homozygous factor X deficiency in a pregnant patient: A case report and review of the literature
AbstractCongenital factor X (FX) deficiency is an extremely rare, autosomal recessive inherited condition with an estimated incidence of 1:1 000 000 with an eightfold to 10-fold increase in frequency in populations with consanguineous marriages. 1 It is a heterogeneous bleeding disorder that, dependent on the residual FX level, can be asymptomatic or present with grade I (minor provoked), grade II (minor spontaneous; eg, epistaxis) to grade III (severe spontaneous) bleeding (eg, haematomas, haemarthrosis, central nervous, umbilical cord and gastrointestinal bleeding).
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.
