DeCure for Intellectual disability, autosomal dominant 50
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal dominant 50 — 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 moduleIntellectual disability, autosomal dominant 50 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 intellectual disability, autosomal dominant 50 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
N-alpha-acetyltransferase 15, NatA auxiliary subunit (NAA15) — NAA15 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 ihpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6C9M · 2.8 Å · ligand INOSITOL HEXAKISPHOSPHATE (IHP). Experimental structure, not a prediction.
What the evidence adds up to
Intellectual disability, autosomal dominant 50, is one of many genetic forms of a disorder that affects roughly 1% of the general population. More than 700 candidate intellectual disability genes have been identified, including 200 autosomal-dominant genes. The encoded proteins of most of these genes are involved in the formation and functioning of synapses. The proposed candidate genes still need statistically significant confirmation on sufficiently large samples of patients and control individuals.
A 2021 case report identified a specific de novo heterozygous nonsense variant in the TRIP12 gene, c.40C>T (p.Arg14X), in a patient with intellectual disability. This variant was classified as pathogenic according to American College of Medical Genetics and Genomics standards. The report does not describe any treatment or outcome data for that patient.
A 2024 case series discusses a limited role for pregabalin in managing challenging behaviours in patients with intellectual disability. The authors note that few psychotropics are licensed for this purpose and that the series is intended to expand research. No efficacy data, response rates, or sample sizes are reported in the abstract.
A 2022 review advocates for homeopathic management of intellectual disability disorder, claiming it will remove the disease from the root cause. The abstract provides no clinical trial results, no patient numbers, and no measurable outcomes. What is missing for autosomal dominant 50 intellectual disability specifically is any clinical trial of a drug, any patient stratification by genetic subtype, and any funding for such work.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
ACS Chemical Neuroscience · 2011 · 19 citations · open access
Fragile X Syndrome: An Update on Developing Treatment Modalities
AbstractIntellectual disability (ID; mental retardation) is considered an immutable condition. Current medical practices are aimed at relieving symptoms and not at altering the underlying cognitive deficits. Scientific advancements from the past decade have led to the exciting possibility that ID may now be treatable. Moreover, pharmaceutical therapies targeting the most common form of inherited ID, Fragile X syndrome (FXS), may become the new benchmark for central nervous system (CNS) drug discovery: seeking cures for neurodevelopmental disorders.
Psychology and Personality · 2020 · 9 citations · open access
GENETICS OF INTELLECTUAL DISABILITY
AbstractIntellectual disability (ID) is a disorder with onset during the developmental period that includes both intellectual and adaptive functioning deficits in conceptual, social, and practical domains. The disorder has an overall general population prevalence of approximately 1%, and prevalence rates vary by age. Genetic factors play a major part in ID, especially in syndromic forms. The disorder is provoked by diverse variations of genome DNA – single nucleotide polymorphisms, single nucleotide variants, small insertions/deletions and copy number variations. The mutation can be transmitted from parents to children or happen de novo in a germline. Now there are found about 700 candidate ID genes: 100 X-linked, 200 autosomal-dominant and 400 autosomal-recessive. Non-syndromic forms of ID are associated with 92 candidate genes, of which 5 X-linked-dominant, 32 X-linked-recessive, 33 autosomal-dominant and 22 autosomal-recessive genes. Encoded proteins of most these genes take part in a formation and functioning of synapses. It should be noted that proposed ID candidate genes stand in need of a statistically significant under-statement on sufficiently large samples of patients and control individuals.
Progress in Neurology and Psychiatry · 2024 · 1 citations · open access
Pregabalin in treating challenging behaviour in patients with <scp>ID</scp>
AbstractThere is a limited but important role for pharmacological interventions (psychotropics) in the management of challenging behaviours in patients with intellectual disability. Due to limited number of psychotropics licensed for the treatment or management of challenging behaviours, this case series will further expand the horizon of research to explore the role of pregabalin in the treatment or management of complex patients with intellectual disability presenting with severe challenging behaviours.
[Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient].
AbstractOBJECTIVE: To explore the genetic basis for a patient with intellectual disability. METHODS: Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family. RESULTS: DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3). CONCLUSION: The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
International Journal of Homoeopathic Sciences · 2022 · 0 citations · open access
An overall review on intellectual disability disorder and its homoeopathic management
AbstractThe Intellectual Disability Disorder is found as a one of the clinical manifestations of the rare disorders which occupies a total prevalence of about 6 to 8% globally. The rare disorder is found to cause many of the chronic disabilities in which the intellectual disability disorder is one of them which has a drastic impact on the individual who is affected and their families and includes the health care system. The onset period of the rare disorder begins from the prenatal period into the late adulthood and it is being assessed that about the half of the individual affected are children [1]. The prime and the only purpose of this study undertaken is to find the effectiveness of the homoeopathic medicine in the treatment of the Intellectual Disability Disorder and also to alter their intellectual and the adaptive functions of the affected individual. The homoeopathic medicine will remove the disease from the root cause.
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.
