DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hyperprolinemia type 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 moduleHyperprolinemia type 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 hyperprolinemia type 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.
What the evidence adds up to
A 1972 study in an inbred mouse strain, PRO/Re, found a roughly sevenfold elevation of blood proline compared to the original parental lines and twelve other inbred strains. Those mice also showed marked prolinuria, while no proline was detectable in the urine of the other fourteen strains tested. No treatment or intervention was examined in that animal work.
A 2008 paper described four Italian children with type I hyperprolinemia who had epilepsy, mental retardation, and behavioural disorders. The authors screened for PRODH gene mutations and attempted a genotype-phenotype correlation, but the abstract reports no quantitative outcomes such as survival, response rates, or sample sizes beyond the four patients. No treatment was tested or recommended.
A 2021 case report described one patient with hyperprolinemia type I caused by a homozygous p.T466M mutation in PRODH. That patient presented with short stature, carbohydrate-rich dietary preferences, and mild intellectual disability suggestive of a neurodevelopmental or learning disorder. Again, no treatment was administered or evaluated in the report.
Across these three abstracts, no drug, dietary intervention, or other treatment was tested for hyperprolinemia type II or type I. No clinical trial data exist in these records. What is missing is any controlled trial of a treatment, any patient stratification beyond small case series, and any funding for interventional studies in either humans or the PRO/Re mouse model.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Psychiatric Genetics · 2008 · 30 citations
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation
AbstractType I hyperprolinemia (HPI) is an autosomal recessive disorder caused by proline oxidase deficiency. This enzyme is encoded by the proline dehydrogenase (PRODH) gene on 22q11. The functional consequences of different PRODH mutations on proline oxidase activity have been characterized in vitro. Few patients with HPI with epilepsy and cognitive/behavioral disturbances have been described so far. We screened four Italian children with HPI presenting epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotype-phenotype correlation.
Hyperprolinemia and Prolinuria in a New Inbred Strain of Mice, PRO/Re
AbstractA hyperprolinemia was discovered, in a new inbred strain of mice, which was equivalent to about a sevenfold elevation above the concentration of proline in the blood of either of the original parental lines, or of 12 other inbred strains with diverse genetic constitution. In addition, mice of this PRO/Re strain exhibited a marked prolinuria, whereas the other 14 inbred strains had no proline detectable in their urine.
Human Genome Variation · 2021 · 12 citations · open access
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
AbstractHyperprolinemia type I (HPI) is an autosomal recessive metabolic disorder caused by defects in proline oxidase. We herein describe a case of a patient with HPI and harboring the NM_016335.4 (PRODH_v001):c.1397 C > T (p.T466M) mutation and polymorphisms in the PRODH gene, as detected by plasma amino acid analysis and Sanger sequencing. The patient presented with short stature, carbohydrate-rich dietary preferences, and mild intellectual disability that was suggestive of a neurodevelopmental or learning disorder.
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.
