DeCure for Neurodevelopmental disorder with or without autism or seizures
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for neurodevelopmental disorder with or without autism or seizures — 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 moduleNeurodevelopmental disorder with or without autism or seizures 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 neurodevelopmental disorder with or without autism or seizures 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
collagen type V alpha 1 chain (COL5A1) — COL5A1 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7Y37 · 1.45 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The five abstracts cover epidemiology, single-gene genetics, and clinical description, but none reports a drug trial or any therapeutic intervention. The 2004 primary care study found epilepsy prevalence of 25.4% in adults with autism and 25.5% in those with mental retardation, versus 1% in people without disability; prevalence rose with age in the autism and Down syndrome groups. The 2019 case report describes one woman with a novel pathogenic MBD5 frameshift mutation, therapy-resistant complex partial epilepsy beginning at age 16, and cognitive and behavioural regression in her sixth decade, the second such MBD5 patient suggestive of early onset dementia. The 2025 biliary atresia study of 107 children found 37% of parents reported neurodevelopmental concerns, 47% of children needed support from at least one service, and 30% of 35 children over age two received an autism diagnosis; earlier surgery and faster jaundice clearance correlated with better general neurodevelopmental scores but not with autistic traits. The 2003 and 2015 pieces are conceptual or descriptive, proposing synaptic plasticity disruption and listing disorder categories respectively, with no data on treatment outcomes.
The 2025 presynapse review states ASD affects 0.5%-1% of the global population and argues for shared genetic origins with epilepsy, focusing on presynaptic assembly, ATP metabolism, and the synaptic vesicle cycle, but explicitly says a comprehensive understanding remains elusive and offers no clinical results. No abstract provides evidence for any drug, repurposed or otherwise, in this disease group. The only concrete therapeutic signal is surgical timing in biliary atresia, which is not a pharmacological intervention and concerns a liver condition, not the primary neurodevelopmental disorder.
What is missing is any clinical trial, any repurposing candidate tested in patients, and any biomarker or genetic stratification that would allow a targeted study. The MBD5 case and the presynapse genetics suggest candidate pathways, but no compound has been evaluated against them. Funding for a prospective cohort with standardised seizure and autism outcome measures, and a trial design that separates general cognitive outcomes from autistic traits, would be needed before any drug could be assessed.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Science · 2003 · 696 citations
Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?
AbstractWe often think of neurodevelopmental disorders as beginning before birth, and many certainly do. A handful, however, strike many months after birth, following a period of apparently normal growth and development. Autism and Rett syndrome are two such disorders, and here I consider some of their similarities at the phenotypic and pathogenic levels. I propose that both disorders result from disruption of postnatal or experience-dependent synaptic plasticity.
American Journal on Mental Retardation · 2004 · 83 citations
Prevalence of Epilepsy in Adults With Mental Retardation and Related Disabilities in Primary Care
AbstractTwo primary care practices were used to recruit adults with and without disability. Disability groups included autism, Down syndrome, cerebral palsy, and mental retardation. The patients without disability had an epilepsy prevalence rate of 1%. The prevalence of epilepsy within the disability groups was 13% for cerebral palsy, 13.6% for Down syndrome; 25.4% for autism, 25.5% for mental retardation, and 40% for adults with both cerebral palsy and mental retardation. During the decades of adulthood, the prevalence of epilepsy declined for those with cerebral palsy and mental retardation. The prevalence of epilepsy increased with advancing years for adults with Down syndrome, autism, and those without disability. Nonetheless, during each decade the prevalence of epilepsy was higher in all of the disability groups compared to those without disability.
Molecular Genetics & Genomic Medicine · 2019 · 8 citations · open access
A novel <i>MBD5</i> mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
AbstractBACKGROUND: The minimal critical region in 2q23.1 deletion syndrome comprises one gene only, that is, the methyl-CpG-binding domain protein 5 (MBD5) gene. Since the phenotypes of patients with deletions, duplications or pathogenic variants of MBD5 show considerable overlap, the term MBD5-associated neurodevelopmental disorder (MAND) was proposed. These syndromes are characterized by intellectual disability, seizures of any kind and symptoms from the autism spectrum. In a very limited number of patients, MAND may be associated with regression starting either at early infancy or at midlife. METHODS: The present paper describes a severely intellectually disabled autistic female with therapy resistant complex partial epilepsy starting at her 16the with gradual cognitive and behavioral regression towards her sixth decade. RESULTS: Cognitive and behavioral regression occurred towards the patient's sixth decade. Exome sequencing disclosed a novel heterozygous pathogenic frameshift mutation of MBD5 that was considered to be causative for the combination of intellectual disability, treatment-resistant epilepsy and autism. CONCLUSION: The presented patient is the second with a pathogenic MBD5 mutation in whom the course of disease is suggestive of early onset dementia starting in her fifth decade. These findings stress the importance of exome sequencing, also in elderly intellectually disabled patients, particularly in those with autism.
The Journal of Pediatrics · 2025 · 2 citations · open access
General and Autism-Related Neurodevelopmental Difficulties in Biliary Atresia
AbstractOBJECTIVE: To examine neurodevelopment in biliary atresia (BA) and the relationship of neurodevelopment to key disease-related factors. STUDY DESIGN: In this single-center, observational study, we deployed an anonymized survey of outcomes that was completed by 107 parents of children with BA who were younger than age 12 years. A detailed assessment of general neurodevelopment (Mullens Scale of Early Learning and Vineland Adaptive Behavior Scale) was carried out in 50 infants younger than 5 years old, and emerging autistic traits (Autism Diagnostic Observation Schedule) were assessed in those eligible. Ninety-three age- and sex-matched infants, some with greater likelihood of neurodevelopmental conditions, were used as a reference. RESULTS: Neurodevelopmental concerns were raised by 37% of parents, and 47% of children required support from at least 1 service. In the sample of children younger than 5 years, those with BA had significantly lower adaptive and cognitive skills (ANCOVA: Vineland Adaptive Behavior Scale, F = 18.26, P < .001; Mullens Scale of Early Learning, F = 9.981, P < .001) when compared with both children with lower and greater likelihood of neurodevelopmental difficulties. A clinical or research diagnosis of autism was made in 30% of 35 children >2 years old. Early surgical intervention and faster clearance of jaundice after surgery was associated with better general neurodevelopmental outcomes (F = 2.428, P = .042) but not with the presence of emerging autistic traits. CONCLUSIONS: High levels of neurodevelopmental difficulties in children with BA reveal a need for greater awareness and enhanced surveillance. That early identification and treatment of BA is linked to better general neurodevelopmental outcome and encourages proactive management. However, the novel observation that BA is associated with autistic traits unrelated to disease management will need further investigation to establish clinical relevance and optimize clinical pathways.
America's Children and the Environment: Neurodevelopmental Disorders (Excerpt from the Third Edition)
AbstractNeurodevelopmental disorders are disabilities associated primarily with the functioning of the neurological system and brain. Examples of neurodevelopmental disorders in children include attention-deficit/hyperactivity disorder (ADHD), autism, learning disabilities, intellectual disability (also known as mental retardation), conduct disorders, cerebral palsy, and impairments in vision and hearing. Children with neurodevelopmental disorders can experience difficulties with language and speech, motor skills, behavior, memory, learning, or other neurological functions. While the symptoms and behaviors of neurodevelopmental disabilities often change or evolve as a child grows older, some disabilities are permanent. Diagnosis and treatment of these disorders can be difficult; treatment often involves a combination of professional therapy, pharmaceuticals, and home-and school-based programs.
Frontiers in Neurology · 2025 · 1 citations · open access
Genetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse
AbstractThe neurodevelopmental disorder autism spectrum disorder (ASD) affects 0.5%-1% of the global population and is marked by ongoing difficulties in social communication and cognitive function. Interestingly, ASD has been reported to share a genetic origin with epilepsy, a condition marked by recurrent, unprovoked seizures. Both ASD and epilepsy are caused by multifactorial and multigenetic origin. Whereas the number of genes linked to ASD etiology are growing, the genetic basis of epilepsy is more diverging leading to distinct epileptic syndromes. Despite decades of discussion, a comprehensive understanding of the genetic interplay between these disorders remains elusive. Our article focuses on investigating the shared genetic basis of abnormalities in synaptic proteins, highlighting the presynaptic compartment, which is less explored compared to the postsynaptic elements. We identify those biological processes linked to the presynaptic compartment, such as presynaptic assembly, ATP metabolism, various aspects of the synaptic vesicle cycle, are commonly affected across conditions, as evidenced by the shared genetics. Hence, this study offers initial insights into presynaptic signaling, and further research could aid in developing improved therapeutic strategies by targeting these presynaptic processes.
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.
