DeCure's autonomous Nephrology AI scientist is researching a drug-repurposing hypothesis for oculocerebrorenal syndrome — 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 moduleOculocerebrorenal syndrome 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 oculocerebrorenal syndrome 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
OCRL inositol polyphosphate-5-phosphatase (OCRL) — OCRL 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 gnpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3QBT · 2.0 Å · ligand PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER (GNP). Experimental structure, not a prediction.
What the evidence adds up to
The 2000 study identified a deletion of the entire OCRL1 gene in a male patient with oculocerebrorenal syndrome (Lowe syndrome), confirmed by FISH analysis, and detected the same deletion in the proband’s mother. This was the first report of a whole-gene deletion in OCRL1, expanding the known mutation range. The 2014 report described a Japanese male with a mild phenotype — congenital bilateral cataracts, mild mental disability, short stature, and mild proteinuria with high β2-microglobulinuria — carrying a novel hemizygous missense mutation (T2039C, F680S) in exon 18, outside the catalytic domain. The 2006 review notes that Lowe syndrome is X-linked recessive, with a triad of congenital cataracts, mental retardation, and generalised aminoaciduria, and an estimated prevalence of several cases per 100,000 males.
No drug treatment is mentioned in any of these abstracts. The 2000 and 2014 papers focus on genetic diagnosis and mutation characterisation, not therapy. The 2006 review describes the clinical picture but does not report any therapeutic intervention or outcome data. There are no survival rates, response rates, or sample sizes for any drug trial because no drug trial is described.
What is missing is any clinical trial testing a drug for Lowe syndrome, any patient stratification by mutation type or severity, and any funding directed toward drug development or repurposing for this condition. The abstracts provide no evidence that any compound has been evaluated in patients.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Genetics · 2000 · 23 citations
Identification of a novel deletion of the entire <i>OCRL1</i> gene detected by FISH analysis in a family with Lowe syndrome
AbstractThe oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multisystem disorder affecting the lens, kidney and brain. The gene involved (OCRL1) has been identified and is known to encode a phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Mutations in OCRL1 have been shown to be causative of OCRL. To date, most of the mutations identified have consisted of simple or point mutations and there is one report of a 1.4-kb deletion. We investigated the OCRL1 gene in a male patient with OCRL by the polymerase chain reaction and found that the entire OCRL1 gene was deleted. Fluorescence in situ hybridisation analysis (FISH), with cosmid probes that span the entire OCRL1 gene, was used to confirm this deletion and subsequently identify it in the proband's mother. This is the first report of a whole gene deletion of OCRL1 and thus expands the range of mutations that give rise to OCRL. The use of the FISH technique facilitated carrier and prenatal testing for the deletion in the family.
The Tohoku Journal of Experimental Medicine · 2014 · 11 citations · open access
A Novel <i>OCRL1</i> Mutation in a Patient with the Mild Phenotype of Lowe Syndrome
AbstractOculocerebrorenal syndrome of Lowe (OCRL, OMIM 309000), also known as Lowe syndrome, is a rare X-linked multisystem disorder characterized by congenital cataracts, mental retardation, and Fanconi syndrome of the kidney proximal tubules. Lowe syndrome is caused by mutations in the gene encoding a member of the inositol polyphosphate-5-phosphatase protein family (OCRL1) on chromosome Xq26.1. OCRL1 contains 24 exons and encodes a 105-kDa phosphatidylinositol (4,5) bisphosphate 5-phosphatase. An OCRL1 isoform generated by alternative splicing is predominantly expressed in brain, and localizes to the trans-Golgi network, lysosomes, and endosomes. Impaired inositol polyphosphate-5-phosphatase activity elevates phosphatidylinositol (4,5) bisphosphate levels that are required for vesicle trafficking within the Golgi apparatus, actin cytoskeleton remodeling closely associated with Golgi, and endosomal membrane trafficking. Accordingly, abnormalities in the actin cytoskeleton may influence the function of renal epithelial cells in patients with Lowe syndrome. OCRL1 mutations exist in about 95% of patients with Lowe syndrome, and new mutations occur in 32% affected males. We here describe a Japanese male with the mild phenotype of Lowe syndrome. Physical examination revealed mild congenital bilateral cataracts, mild mental disability, and short stature. Proteinuria was also mild with a high β2-microglobulinuria level. Nucleotide sequence analysis identified a hemizygous mutation (T-to-C transition) at nucleotide 2039 in exon 18 that substitutes Ser (TCT) for Phe (TTT) at amino acid position 680. This missense mutation is located outside the known catalytic domain that is encoded by exons 4 through 15. The present patient carries a novel OCRL1 mutation that is helpful for genetic counseling.
AbstractLowe syndrome, also known as oculocerebrorenal syndrome, is a rare X-linked recessive disorder. It was initially recognized in 1952 by Lowe who described the triad of congenital cataracts, mental retardation, and generalized aminoaciduria. Its prevalence is estimated to be several cases per 100,000 males.
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.
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