DeCure for Intellectual developmental disorder, autosomal dominant 74
DeCure's autonomous Psychiatry AI scientist is researching a drug-repurposing hypothesis for intellectual developmental disorder, autosomal dominant 74 — 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 dominant 74 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 dominant 74 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
Sotos syndrome, historically termed cerebral gigantism, is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A single kindred has been investigated in which the father and four affected offspring all have the syndrome, conforming to an autosomal dominant genetic pattern. No treatment data are reported in this abstract.
A 2011 review of fragile X syndrome states that intellectual disability was long considered immutable, with medical practice aimed only at relieving symptoms rather than altering underlying cognitive deficits. The review raises the possibility that pharmaceutical therapies targeting fragile X syndrome, the most common inherited form of intellectual disability, might become a benchmark for central nervous system drug discovery seeking cures for neurodevelopmental disorders. No clinical results are given.
A 2023 case series and literature review of autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations reports 48 children with such mutations, including 8 new cases from one hospital. Among these 48 children, 40 had seizures, with a mean age of seizure onset of 31.4 months. Frameshift mutations accounted for 15 of 48 (31%) and nonsense mutations for 19 of 48 (40%). Of 33 children with a history of epileptic medication, 28 (85%) showed response to valproic acid antiepileptic treatment, and 16 (48%) achieved complete seizure control with valproic acid monotherapy or combined therapy. The abstract concludes that valproic acid is effective for seizures in most of these children, but it does not address cognitive outcomes.
The evidence base for treating the core intellectual disability in autosomal dominant intellectual developmental disorder type 74 is absent. The only concrete therapeutic data concern seizure control in SYNGAP1-related cases, not the disorder named in the query. What is missing is any trial of a drug aimed at cognitive function in this specific genetic condition, any patient stratification by mutation type beyond seizure phenotype, and any longitudinal data on whether seizure control alters developmental trajectory. Funding for such a trial and a validated cognitive endpoint for this rare disorder are also lacking.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractSotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos syndrome. Autosomal dominant inheritance has been postulated in the past, and the family conform to this genetic pattern.
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.
[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.
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.
