DeCure for Intellectual disability, autosomal recessive 13
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal recessive 13 — 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 recessive 13 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 recessive 13 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
Intellectual disability, autosomal recessive 13 is not mentioned in any of the three abstracts provided. The 2011 abstract discusses Fragile X syndrome as a possible benchmark for treating intellectual disability generally, but it offers no data from any trial or experiment — only the opinion that pharmaceutical therapies targeting FXS may become a new benchmark for CNS drug discovery. No concrete numbers, no survival or response rates, and no drug names appear in that abstract.
The 2023 abstract reports a study of developmental functioning in infants and toddlers with autism spectrum disorder, seizures, cerebral palsy, and atypical development. It found statistically significant differences in overall developmental functioning and in each subdomain of the BDI-2 between these groups. The authors state that these findings provide a basis for further research into comorbidities and the impact of intellectual disability, but no drug is tested or mentioned, and no specific treatment is evaluated.
The 2019 abstract describes a single case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) who presented with high-functioning autism, late-onset epilepsy that responded to drugs, and relatively good language development. This is a single case report, not a trial, and it concerns a different genetic condition. No drug is named, no sample size beyond one patient is given, and no results for intellectual disability, autosomal recessive 13 are reported.
What is still missing: any clinical trial or preclinical study that tests a drug specifically for intellectual disability, autosomal recessive 13; any patient stratification by genotype; and any funding directed at this particular recessive form of intellectual disability.
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.
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.
Developmental Neurorehabilitation · 2023 · 3 citations · open access
Developmental Functioning of Infants and Toddlers with Neurodevelopmental Disorders
AbstractPURPOSE: The current study aimed to investigate developmental functioning in infants and toddlers with autism spectrum disorder (ASD), seizures, cerebral palsy (CP), and atypical development. METHODS: An ANOVA was utilized to investigate the differences between neurodevelopmental group on BDI-2 developmental quotient and a MANOVA was used to investigate the differences between the groups and five developmental domains. RESULTS: The results indicated statistically significant differences in overall developmental functioning and each subdomain of the BDI-2. DISCUSSION: These findings provide the basis for further research to investigate comorbidities of the three neurodevelopmental disorders and parse out the impact of intellectual disability (ID).
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome
AbstractMany neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . This report suggests that a diagnosis of Inv-Dup (15) can be suspected during more benign atypical condition with a better outcome than usually reported.
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.
