DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Ochoa syndrome — 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 moduleOchoa syndrome 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 ochoa 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.
What the evidence adds up to
Ochoa syndrome, also called urofacial syndrome, is a very rare autosomal recessive disorder. Around 150 cases have been reported in the medical literature. The condition is characterised by a peculiar inverted facial expression, mainly when smiling or crying, together with urinary abnormalities. A 5-year-old boy born of nonconsanguineous marriage presented with characteristic facial grimace, enuresis, constipation and delayed milestones; evaluation revealed a normal karyotype with a paternally inherited variant chromosome 14 (14ps+), though his father showed a normal phenotype. This was the first report of Ochoa syndrome from India. Another 5-year-old boy presented with stage IV chronic kidney disease with bilateral hydroureteronephrosis secondary to chronic urinary incontinence; his peculiar facial expression with a grimace while smiling suggested the diagnosis.
The syndrome is associated with autosomal recessive inheritance mutations within the HPSE2 gene at 10q23-q24 and the LRGI2 gene at 1p13.2. However, in up to 16% of patients, no associated mutations have been identified. Recent evidence indicates these genes are critical for adequate neurological development of the lower urinary tract, and the origin of the disease appears to be related to peripheral neuropathy. There is clinical variability among patients, and not all manifest the classic two components; the syndrome has even been genetically confirmed in patients with a prior diagnosis of Hinman syndrome or other urinary bladder dysfunctions. The presence of nocturnal lagophthalmos in these patients has been recently reported.
No drug treatment is described in any of the abstracts. Management of the reported cases was conservative for neurogenic bladder, with one patient under follow-up. The 2025 update discusses embolisation of the urinary bladder for intractable unresolving visible haematuria, but this is a procedural intervention, not a drug. No response rates, survival data, or drug efficacy figures are given in any of the abstracts.
What is still missing is any clinical trial testing a pharmacological intervention for Ochoa syndrome, any patient stratification beyond the genetic subtypes, and dedicated funding for drug-repurposing studies in this ultra-rare population. Without such trials, management remains supportive and focused on preventing urinary tract infections and chronic kidney disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
International Journal of Human Genetics · 2010 · 1 citations
Urofacial (Ochoa) Syndrome - A Case Report
AbstractUrofacial (Ochoa) syndrome is a very rare autosomal recessive disorder characterized by a peculiar inverted facial expression, mainly when smiling or crying and urinary abnormalities. A 5-year-old boy, born of nonconsanguineous marriage presented with characteristic facial grimace, enuresis, constipation and delayed milestones. An evaluation of GTG–banded metaphases revealed a normal karyotype with a paternally inherited variant chromosome 14 (14ps+). However, his father showed a normal phenotype. This is the first report of Ochoa syndrome from India.
Indian Journal of Nephrology · 2022 · 1 citations · open access
Ochoa syndrome – Neurogenic bladder with an inverted smile
AbstractOchoa or urofacial syndrome is a rare autosomal recessive syndrome with around 150 cases reported in the medical literature comprising of neurogenic bladder and facial abnormalities, culminating in obstructive uropathy and chronic kidney disease. We report a 5-year-old boy presenting to us with Stage IV chronic kidney disease with bilateral hydroureteronephrosis secondary to chronic urinary incontinence. His peculiar facial expression with a grimace while smiling suggested the diagnosis of Ochoa syndrome. He was managed conservatively for neurogenic bladder and is under follow-up. We wish to highlight this unique syndrome and the simplicity in making this syndromic diagnosis, just by appreciating abnormal facial expressions.
General medicine and Clinical Practice · 2025 · 0 citations · open access
Embolization Of Urinary Bladder for The Treatment of Intractable Unresolving Visible Haematuria an Update
AbstractIt has been iterated that the Urofacial or Ochoa Syndrome (UFS or UFOS) is typified by an inverted facial expression (those affected seem crying while smiling) that is associated with lower urinary tract dysfunction without evident obstructive or neurological cause. It is stated to be associated with autosomal recessive inheritance mutations within the HPSE2 gene, that is located at 10q23-q24, and the LRGI2 gene, located in 1p13.2; nevertheless, in up to 16% of patients, no associated mutations had been identified. Recent evidence had indicated that these genes are critical to an adequate neurological development to the lower urinary tract and that the origin of the disease appeared to be related to peripheral neuropathy. There is clinical variability among patients who are afflicted by UFS and not all patients with UFS do manifest with the classic two components, and it has even been genetically confirmed in patients with a prior diagnosis of Hinman Syndrome or other urinary bladder dysfunctions. Also, the presence of nocturnal lagophthalmos in these patients had been recently reported. Early recognition and timely diagnosis of UFS are critical for the prevention of complications such as urinary tract infections or chronic kidney disease. Next, to support readers throughout the world about this difficult and enigmatic condition to elucidate, an update of the literature on UFS has been extensively provided in the article.
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.
