DeCure for Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for agenesis of corpus callosum, cardiac, ocular, and genital 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 moduleAgenesis of corpus callosum, cardiac, ocular, and genital 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 agenesis of corpus callosum, cardiac, ocular, and genital 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
No drug or treatment is tested or mentioned in any of these abstracts. The four abstracts describe the natural history, associated anomalies, and genetic basis of agenesis of the corpus callosum and the specific syndrome ACOGS (Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome). One prospective study followed 40 children with partial callosal agenesis for up to 15 years and found that most were developmentally delayed or retarded at diagnosis, and that those diagnosed in infancy usually had or later developed seizures, while older patients had a more favourable outcome and were less likely to develop epilepsy. A separate review of 22 boys and 11 girls with callosal agenesis reported that renal anomalies were the most frequent genitourinary abnormality, and that undescended testes occurred in 23% of male patients, roughly 20 times the normal frequency, possibly due to hypothalamic insufficiency.
A 2022 case report describes the fifteenth patient ever reported with ACOGS, a girl with a novel de novo nonsense variant in the CDH2 gene. She was the first female ACOGS patient found to have a renal anomaly; previously only genital malformations such as cryptorchidism and micropenis had been reported in male patients. The abstract notes that ACOGS is characterised by global developmental delay, agenesis or hypoplasia of the corpus callosum, craniofacial dysmorphism, and ocular, cardiac, and genital anomalies. A 2011 review states that disrupted formation of the corpus callosum occurs in about 1 in 3000 live births, and that epilepsy incidence in ACC and related syndromes ranges from 25% to 62%. It also lists several genetic syndromes associated with ACC, including Aicardi syndrome, Andermann syndrome, and Mowat-Wilson syndrome, but provides no treatment data.
What is still missing is any clinical trial of a drug for ACOGS or for agenesis of the corpus callosum generally. No therapy has been tested in these patients. The condition is extremely rare — only 15 ACOGS patients reported in the literature — which makes trial recruitment difficult. There is no established patient stratification beyond genetic diagnosis, and no funding for interventional studies is mentioned.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American journal of diseases of children · 1985 · 52 citations
Agenesis of the Corpus Callosum
AbstractForty children with partial agenesis of the corpus callosum have been prospectively identified and followed up for up to 15 years. Additional physical anomalies and diagnoses were frequent. At the time of diagnosis, the majority of children were developmentally delayed or retarded. If callosal agenesis was diagnosed during infancy, most children had or subsequently developed seizures. Older patients had a more favorable outcome and were less likely to develop epilepsy.
Genitourinary Malformations Associated with Agenesis of the Corpus Callosum
AbstractAgenesis of the corpus callosum is an infrequent congenital anomaly that occurs in partial or complete forms, and is frequently associated with other craniofacial and skeletal abnormalities. An increased association with genitourinary abnormalities has not been previously defined. We reviewed the records of 22 boys and 11 girls with agenesis of the corpus callosum. Of the patients 18 had complete radiological or necroscopic evaluation and 15 had physical examinations as the sole means of evaluation. Renal anomalies were the most frequent genitourinary abnormalities identified in these children, although ureteral, genital and bladder abnormalities were also encountered. There was an exceptionally high incidence of undescended testes (23%), approximately 20-fold greater than the frequency in the normal population, possibly resulting from hypothalamic insufficiency associated with midline cranial defects. We suggest, therefore, that all patients with agenesis of the corpus callosum should be thoroughly evaluated with bladder and renal ultrasound studies to rule out any genitourinary abnormalities. Male patients with agenesis of the corpus callosum and undescended testes should undergo hypothalamic/pituitary axis testing.
American Journal of Medical Genetics Part A · 2022 · 5 citations
A Novel nonsense variant in the <i>CDH2</i> gene associated with <scp>ACOGS</scp>: A case report
AbstractAgenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome (ACOGS; OMIM #618929) is a rare genetic disorder characterized by global developmental delay, agenesis or hypoplasia of corpus callosum, craniofacial dysmorphism, ocular, cardiac, and genital anomalies. ACOGS is caused by variations in the CDH2 gene. Our patient had a novel finding besides the classical findings of ACOGS. To the best of our knowledge, only 14 patients with ACOGS have been reported. Here, we reported the fifteenth patient with ACOGS, having a novel de novo nonsense variant in the CDH2 gene, and the first patient from Turkey with a novel finding. Our patient was the first female to have a renal anomaly since only genital malformations were reported in male patients (cryptorchidism, micropenis) so far.
Cambridge University Press eBooks · 2011 · 0 citations
Meningioma
AbstractDisrupted formation of the corpus callosum is the second most common central nervous system birth defect, occurring in approximately 1 in 3000 live births. The incidence of epilepsy in patients with agenesis of the corpus callosum (ACC) and its related syndromes ranges from 25% to 62%. Aicardi syndrome is a presumed X-linked syndrome, as it is seen only in females and Klinefelter syndrome (XXY) males. The ARX gene is a homeobox gene that has been shown to be crucial in forebrain, pancreatic, and testicular development. Andermann syndrome, also known as peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN). An autosomal dominant disorder, Mowat-Wilson, is caused by de novo mutations or deletions within the ZFHX1B (ZEB2) gene. Recent work in studying large cohorts of ACC individuals is providing insight into the diversity of causes which lead to ACC, which will provide important insight into mechanisms and outcomes.
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.
