DeCure for Intellectual developmental disorder, autosomal recessive 69
DeCure's autonomous Psychiatry AI scientist is researching a drug-repurposing hypothesis for intellectual developmental disorder, autosomal recessive 69 — 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 moduleIntellectual developmental disorder, autosomal recessive 69 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 intellectual developmental disorder, autosomal recessive 69 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
The abstracts provided do not describe any drug treatment for intellectual developmental disorder, autosomal recessive 69 specifically. One 2011 review discusses the possibility of treating intellectual disability generally, citing Fragile X syndrome as a potential benchmark for drug discovery, but it reports no clinical results, no compounds, and no outcome data. A 2022 case report of a child with a ZBTB18 mutation (autosomal dominant mental disorder type 22, not the autosomal recessive form) notes that seizures were controlled for nearly half a year after treatment with levetiracetam and rehabilitation, with some improvement in psychomotor and language development; this is a single case, not a trial, and the drug was used for epilepsy, not the intellectual disability itself. A 2023 case report describes hebephrenic schizophrenia in a patient with subependymal heterotopia and intellectual disability, but mentions no treatment. A 2019 paper on fine mapping of the MRT9 locus in a consanguineous Pakistani family reports no therapeutic intervention at all.
Across all four abstracts, there is no evidence of any drug being tested for the autosomal recessive form of intellectual disability, and no response rates, survival figures, or sample sizes beyond single patients are given. The only pharmacological data point is the levetiracetam response in one child with a different genetic diagnosis. The 2011 review is speculative, and the 2019 mapping study is purely genetic. No abstract claims efficacy for any drug in intellectual developmental disorder, autosomal recessive 69, and none of the papers even mention this specific disease code.
What is missing is any clinical trial, any preclinical model for this specific recessive disorder, any drug candidate identified for it, and any patient cohort beyond isolated case reports. Funding for systematic drug screening in autosomal recessive intellectual disability, a trial design that measures cognitive endpoints rather than seizure control, and genetic stratification to separate the many recessive forms are all absent. Without those, no repurposing claim can be made from this literature.
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.
[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].
AbstractOBJECTIVE: To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay. METHODS: Clinical data and laboratory examination of the patient were reviewed. Whole exome sequencing (WES) was also carried out for the family trio. RESULTS: The main manifestations of the child included global developmental delay, short stature, epileptic seizures. EEG revealed frequent occurrence of sharp (slow) waves in the right central region during sleeping, with sharp waves occasionally seen in the frontal and right posterior temporal regions. Cranial MRI has shown no obvious abnormality. WES has identified a de novo pathogenic variant in the ZBTB18 gene [NM_205768.3: exon 2: c.1282_1283del (p.Phe428Leufs*72)]. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PVS1_Moderate+PM2_Supporting). Following treatment with levetiracetam and rehabilitation, the seizures have been controlled for nearly half a year, with improvement of the psychomotor and language development. So far 28 children have been discovered with ZBTB18 gene mutations, and there was a significant difference in the clinical phenotypes of motor retardation, language retardation and epilepsy between those harboring frameshift/nonsense mutations and missense mutations. CONCLUSION: The c.1282_1283del (p.Phe428leufs *72) variant of the ZBTB18 probably underlay the autosomal dominant mental disorder type 22 in this child. Compared with missense mutations, frameshift/nonsense mutations may predispose more to motor retardation, delayed language development and epilepsy.
Archives of Medicine and Health Sciences · 2023 · 0 citations · open access
A Case Report of Hebephrenic Schizophrenia in Intellectual Disability with Subependymal Heterotopia
AbstractSubependymal heterotopia (SH), also commonly known as periventricular nodular heterotopia, is believed to result from a faulty neuronal migration which is associated with seizure disorders and intellectual disability. Intellectual developmental delay (IDD) is a condition of arrested or incomplete development of mind with the impairment of intelligence. Although SH and IDD co-occur often, cases of schizophrenia in SH with IDD are less commonly reported. A thorough search of scientific databases with keywords of IDD, SH, and schizophrenia on PubMed, Scopus, and Google Scholar combined yielded limited results, prompting us to report this case of SH without any history of seizures who developed hebephrenic Schizophrenia. This highlights the need to check for the presence of SH by MRI scan in individuals with IDD and psychosis.
Journal of the Pakistan Medical Association · 2019 · 0 citations · open access
Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family
AbstractIntellectual disability (ID) or Mental Retardation (MR) is a broad term, which occupies several medical directions. It is extremely heterogeneous and has about reported 25,000 genes of which half of the genes expression have been found in the brain. Intellectual disability causes severe disability and has a worldwide prevalence ofaround 2% while autosomal recessive form of ID causes almost 25% of all non syndromic (NS) ID cases. A consanguineous family (who will be referred as) MR7 with phenotype of ID was sampled in Swat region of Pakistan.All affected individuals in the family were observed having a low IQ and cognitive mutilation with no sign of biochemical, skeletal or neurological abnormalities. Continou....
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.
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