DeCure for Intellectual disability, autosomal dominant 15
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal dominant 15 — 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 disability, autosomal dominant 15 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 disability, autosomal dominant 15 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
SWI/SNF related BAF chromatin remodeling complex subunit B1 (SMARCB1) — SMARCB1 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 befdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7VDV · 3.4 Å · ligand BERYLLIUM TRIFLUORIDE ION (BEF). Experimental structure, not a prediction.
What the evidence adds up to
Intellectual disability, autosomal dominant 15, is a genetic condition caused by a heterozygous de novo variant in the TRIP12 gene. One 2021 case report identified a specific nonsense variant, c.40C>T (p.Arg14X), in a patient. This variant was not found in the Human Gene Mutation Database and was classified as pathogenic under ACMG guidelines. The diagnosis was confirmed by whole exome and Sanger sequencing. No other cases or treatment trials for this specific genetic subtype were reported in the provided abstracts.
The broader literature on intellectual disability notes that it affects 3–28% of the general population, with a single gene disorder identified in up to 12% of cases. A 2011 review on Fragile X syndrome, the most common inherited form, stated that intellectual disability was then considered an immutable condition and that current medical practice aimed only at symptom relief, not at altering cognitive deficits. That review expressed hope that pharmaceutical therapies targeting Fragile X might become a benchmark for CNS drug discovery, but no results from such therapies were given.
A 2025 case report described a 15-year-old boy with intellectual disability and challenging sexual behaviour who was treated with GnRH analogues. The authors noted that traditional treatments often fail for such behaviours and that alternative options need study. No data on efficacy, response, or side effects from the GnRH analogue treatment were reported in the abstract. A 2021 review on autosomal recessive intellectual disability focused on inbred populations and did not address autosomal dominant forms.
What is still missing: no clinical trials, no treatment efficacy data, no patient stratification for TRIP12-related intellectual disability, and no funding for drug repurposing studies in this specific genetic subtype. The evidence base consists of single case reports and general reviews, with no controlled studies or measurable outcomes.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Occupational Therapy In Health Care · 2011 · 81 citations
The Down Syndrome Behavioral Phenotype: Implications for Practice and Research in Occupational Therapy
AbstractABSTRACT Down syndrome (DS) is the most common chromosomal cause of intellectual disability. The genetic causes of DS are associated with characteristic outcomes, such as relative strengths in visual-spatial skills and relative challenges in motor planning. This profile of outcomes, called the DS behavioral phenotype, may be a critical tool for intervention planning and research in this population. In this article, aspects of the DS behavioral phenotype potentially relevant to occupational therapy practice are reviewed. Implications and challenges for etiology-informed research and practice are discussed.
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.
Current Pediatric Reviews · 2021 · 12 citations · open access
Pediatrics for Disability: A Comprehensive Approach to Children withSyndromic Psychomotor Delay
AbstractIntellectual disability is the impairment of cognitive, linguistic, motor and social skills that occurs in the pediatric age and is also described by the term "mental retardation". Intellectual disability occurs in 3-28 % of the general population due to a genetic cause, including chromosome aberrations. Among people with intellectual disabilities, the cause of the disability was identified as a single gene disorder in up to 12 %, multifactorial disorders in up to 4 %, and genetic disorders in up to 8.5 %. Children affected by a malformation syndrome associated with mental retardation or intellectual disability represent a care challenge for the pediatrician. A multidisciplinary team is essential to manage the patient, thereby controlling the complications of the syndrome and promoting the correct psychophysical development. This requires continuous follow-up of these children by the pediatrician, which is essential for both the clinical management of the syndrome and facilitating the social integration of these children.
Psychopharmacology Bulletin · 2025 · 2 citations · open access
Case Report: A Case of Intellectual Disability with Inappropriate and Challenging Sexual Behavior that was Treated with GNRH Analogues
AbstractIntellectual Disability starts within the course of developmental stages and covers both intellectual and adaptive deficiencies in conceptual, social and applied fields. Individuals with intellectual disability experience many difficulties in social life due to challenging and inappropriate sexual behaviour. Suchdifficulties need to be addressed, reduced or treated. Traditional treatments often fail to treat and improve suchbehavior. Alternative treatment options need to be explored with studies conducted in this field. With this paper, we aimed to show and touch on alternative treatments for challenging and inappropriate behaviors of a 15-year old boy with intellectual disability, who was treated with GNRH analogues.
[Autosomal dominant mental retardation type 5 caused by <i>SYNGAP1</i> gene mutations: a report of 8 cases and literature review].
AbstractOBJECTIVES: gene mutations. METHODS: gene mutations who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University. RESULTS: gene mutations (including the children in this study), among whom 40 had seizures, and the mean age of onset of seizures was 31.4 months. Frameshift mutations (15/48, 31%) and nonsense mutations (19/48, 40%) were relatively common in these children. In terms of treatment, among the 33 children with a history of epileptic medication, 28 (28/33, 85%) showed response to valproic acid antiepileptic treatment and 16 (16/33, 48%) achieved complete seizure control after valproic acid monotherapy or combined therapy. CONCLUSIONS: gene mutations tend to have an early age of onset, and most of them are accompanied by seizures. These children mainly have frameshift and nonsense mutations. Valproic acid is effective for the treatment of seizures in most children.
[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.
Majmaah Journal of Health Sciences · 2021 · 0 citations · open access
Review On Clinical And Molecular Genetics Of Autosomal Recessive Intellectual Disability
AbstractIntellectual disability (ID) is a relatively common phenotype with multiple etiologies. Recent progress in the genetics of ID greatly expanded our understanding of the biological defects underlying this clinical entity. While most published cohort genetic studies on ID revealed the important contribution of de novo (germline or postzygotic) variants, we focused in this study of autosomal recessive ID (ARID), that account for most of the molecular bases in ID cases in inbred populations. We discussed the current state of ARID from a clinical, molecular and genetics standpoints.
Frontiers in Cellular Neuroscience · 2016 · 0 citations · open access
Molecular and genetic mechanisms of intellectual disability
AbstractFrontiers Events is a rapidly growing calendar management system dedicated to the scheduling of academic events. This includes announcements and invitations, participant listings and search functionality, abstract handling and publication, related events and post-event exchanges. Whether an organizer or participant, make your event a Frontiers Event!
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.
