DeCure for Agenesis of the corpus callosum with peripheral neuropathy
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for agenesis of the corpus callosum with peripheral neuropathy — 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 the corpus callosum with peripheral neuropathy 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 the corpus callosum with peripheral neuropathy 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
solute carrier family 12 member 6 (SLC12A6) — SLC12A6 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 2~{r}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6M22 · 2.7 Å · ligand 2-[[(2~{R})-2-butyl-6,7-bis(chloranyl)-2-cyclopentyl-1-oxidanylidene-3~{H}-inden-5-yl]oxy]ethanoic acid (EZC). Experimental structure, not a prediction.
What the evidence adds up to
A 2001 study of 2,164 children who underwent CT brain scans found 22 cases of corpus callosum agenesis, a rate of 1%. Most of those children were not syndromic, 64% were male, and about one third had epileptic disorders. The authors note that corpus callosum agenesis is an important anomaly in children with neurodevelopmental handicaps, usually detected by neuroradiology.
A 2004 review describes the complex cellular and molecular mechanisms required for corpus callosum development, including midline glial populations, guidance molecules, and pioneering axons from the cingulate cortex. The authors suggest that different mechanisms may regulate development across the rostrocaudal and dorsoventral axes, and that this complexity may explain why so many human congenital syndromes include agenesis of the corpus callosum.
A 2020 case report describes a 7-year-old girl with infantile-onset hypotonia, mild intellectual disability, and severe motor and sensory demyelinating peripheral neuropathy. Brain MRI showed an intact corpus callosum. Whole exome sequencing found a novel splice-site pathogenic variant in the SLC12A6 gene. The authors confirm that agenesis of the corpus callosum is not a mandatory feature of Andermann syndrome and suggest the term ACCPN may be misleading.
No drug treatment is mentioned in any of these abstracts. What is missing is any clinical trial data, any pharmacological intervention, any patient stratification beyond the single case report, and any funding directed toward treatment rather than description of the condition.
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 · 2004 · 248 citations
Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human
AbstractThe development of the corpus callosum depends on a large number of different cellular and molecular mechanisms. These include the formation of midline glial populations, and the expression of specific molecules required to guide callosal axons as they cross the midline. An additional mechanism used by callosal axons from neurons in the neocortex is to grow within the pathway formed by pioneering axons derived from neurons in the cingulate cortex. Data in humans and in mice suggest the possibility that different mechanisms may regulate the development of the corpus callosum across its rostrocaudal and dorsoventral axes. The complex developmental processes required for formation of the corpus callosum may provide some insight into why such a large number of human congenital syndromes are associated with agenesis of this structure.
Agenesis of the corpus callosum: sonographic features.
AbstractSonographic features of agenesis of the corpus callosum and its related intracranial abnormalities are described in four patients. A brief review of clinical, radiologic, and pathologic manifestations of agenesis of the corpus callosum is presented. Both agenesis of the corpus callosum and its potentially serious associated intracranial abnormalities can be effectively diagnosed with transfontanelle sonography.
AbstractOBJECTIVE: The objectives are to analyse corpus callosum agenesis in children with various neurological problems in a hospital set-up, and to study the neurological and systemic abnormalities associated with this condition. METHODS: The children with various neurological problems who underwent computerized tomography brain from January 1993 to December 1997, and were found to have corpus callosum agenesis, formed the subjects of this study. These children were examined for any syndromic association, congenital infections or metabolic defects. RESULTS: Out of 2164 children who underwent computerized tomography brain, 22 had corpus callosum agenesis (1%). Most cases were not syndromic and 64% were males. Epileptic disorders were noted in about one third of cases. CONCLUSION: Corpus callosum agenesis an important anomaly in children with neurodevelopment handicaps, usually detected by neuroradiology.
Journal of Pediatric Genetics · 2020 · 3 citations · open access
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum
AbstractAbstract Andermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral neuropathy (ACCPN), is an autosomal recessive motor and sensory neuropathy known to be associated with ACC and mild-to-moderate intellectual disability. We present a 7-year-old girl with infantile-onset hypotonia, mild intellectual disability, and severe motor and sensory demyelinating peripheral neuropathy. Brain magnetic resonance imaging showed intact corpus callosum. Whole exome sequencing showed a novel splice-site pathogenic variant in the SLC12A6 gene. We confirm that ACC is not a mandatory feature and suggest that the term ACCPN may be misleading.
Clinical EEG and Neuroscience · 2014 · 2 citations
Agenesis of the Corpus Callosum and Generalized Epilepsy
AbstractThe corpus callosum is the main band of interhemispheric axonal fibers in the human brain. Corpus callosum agenesis has widely varying symptoms, mainly associated with epilepsy, cognitive failure, and different neuropsychiatric disorders. Our case of corpus callosum agenesis includes eyelid myoclonia with absences. In the literature, there is no reported case of this combination. We report this case because it is rare, and relevant for the understanding of interhemispheric communications, based on our electrophysiological findings.
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.
