DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for homocystinuria — screening already-approved drugs against its 7-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHomocystinuria maps to a 7-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 homocystinuria 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
betaine--homocysteine S-methyltransferase (BHMT) — BHMT 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 hcsdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4M3P · 1.895 Å · ligand 2-AMINO-4-MERCAPTO-BUTYRIC ACID (HCS). Experimental structure, not a prediction.
What the evidence adds up to
Homocystinuria was diagnosed in a newborn on the fourth day of life by detecting homocystine in urine and on the fifth day by a marked elevation of serum methionine. Treatment with a special low-methionine diet reduced blood methionine to near-normal levels in that single case. The 1966 report argues the disease should be searched for by routine newborn screening and may respond favourably to dietary therapy, but provides no long-term outcome data.
A 2008 case describes a teenage boy with pyridoxine-unresponsive homocystinuria who presented with sagittal sinus thrombosis, papilledema, transient right hemiparesis, and pneumothoraces. Diagnosis was confirmed by aminogram, enzyme assay, and clinical trial. Treatment was methionine restriction and betaine. The authors note that thrombotic and thromboembolic complications are the main causes of morbidity and mortality in homocystinuria, but that thrombosis as the sole presenting feature is unusual. No data on treatment efficacy or survival are given for this single patient.
The Italian National Research Council launched a subproject on homocystinuria in 2009 with three objectives: establish prevalence and incidence in Italy, develop sensitive assays of sulfated amino acids to discriminate heterozygotes from normal subjects, and better define the interactions between homocystinuria and vascular complications. No results from this project are reported in the abstract.
What is still missing: prospective controlled trials of dietary therapy or betaine with survival and thrombosis endpoints, validated newborn screening programmes with long-term follow-up, and any systematic data on whether early treatment alters the natural history of the disease. The Italian project may eventually provide prevalence figures and better diagnostic assays, but no clinical trial results are described.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
PEDIATRICS · 1966 · 51 citations
Early Diagnosis and Treatment of Homocystinuria
AbstractHomocystinuria was diagnosed in a newborn infant by detection of homocystine in urine on the fourth day of life, and by the demonstration of a marked elevation of serum methionine concentration on the fifth day. Treatment with a special low-methionine diet has reduced the concentrations of methionine in blood to near-normal levels. This metabolic disease should be searched for by routine screening of newborn infants, and may possibly respond favorably to dietary therapy.
Homocystinuria Presenting as Sagittal Sinus Thrombosis
AbstractThrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis to be the single clinical feature leading to investigation for homocystinuria. We report an academically superior teenage boy who presented with sagittal sinus thrombosis, papilledema, transient right hemiparesis, and pneumothoraces. Pyridoxine-unresponsive homocystinuria was diagnosed by aminogram, enzyme assay, and clinical trial. Treatment has been with methionine restriction and betaine. Homocystinuria should be considered in patients with unusual vascular lesions or premature thromboembolism.
The Italian National Research Council Project on Homocystinuria
AbstractThe Italian National Research Council (CNR) has launched a special project aiming at gathering competences on rare diseases, their pathogenesis and their possible pharmacological management. The subproject on homocystinuria has three main objectives: to establish the prevalence and incidence of the disease in the Italian population, to develop sensitive assays of sulfated amino acids which allow discrimination of heterozygotes from normal subjects and to better define the complex interactions between homocystinuria and vascular complications.
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.
