DeCure for X-linked intellectual disability-cerebellar hypoplasia syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for X-linked intellectual disability-cerebellar hypoplasia syndrome — 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 moduleX-linked intellectual disability-cerebellar hypoplasia syndrome 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 x-linked intellectual disability-cerebellar hypoplasia syndrome 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
X-linked intellectual disability affects 1% to 3% of the population, and 102 XLID genes have been identified. The proteins these genes encode are involved in cognition, learning, and memory, and mutations affect the structure and function of synapses. X-linked disorders with cerebellar dysgenesis are a genetically heterogeneous group marked by a cerebellar defect visible on brain imaging, caused by gene mutations or genomic imbalances on the X-chromosome. At least 15 genes on the X-chromosome have been associated with a pathological cerebellar phenotype, and 8 XLCD loci have been mapped. Two recurrent duplication syndromes in Xq28 have been associated with cerebellar hypoplasia.
Neurological features of X-linked disorders with cerebellar dysgenesis include hypotonia, developmental delay, intellectual disability, ataxia, and other cerebellar signs, though normal cognitive development has also been reported. Cerebellar dysgenesis may be isolated or associated with other brain malformations or multiorgan involvement. Cerebellar hypoplasia is a feature of several congenital malformation syndromes and inherited metabolic disorders, and symptoms in infants or young children can include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary eye movements. In older children, symptoms may include headache, dizzy spells, clumsiness, and hearing impairment.
The group of X-linked disorders with cerebellar dysgenesis is probably underestimated, and families of patients with neuroradiological and clinical evidence of a cerebellar disorder should be counselled for high risk of X-linked inheritance. No drug treatments are mentioned in these abstracts. No clinical trials, no response rates, no survival data, and no repurposing candidates are reported.
What is missing is any clinical trial data, any tested intervention, any patient stratification beyond genetic locus, and any funding directed toward a specific drug for this condition. The abstracts describe the biology and inheritance but provide no evidence for any pharmacological treatment.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Neuroscientist · 2013 · 51 citations
The Neurobiology of X-Linked Intellectual Disability
AbstractX-linked intellectual disability (XLID) affects 1% to 3% of the population. XLID subsumes several heterogeneous conditions, all of which are marked by cognitive impairment and reduced adaptive skills. XLID arises from mutations on the X chromosome; to date, 102 XLID genes have been identified. The proteins encoded by XLID genes are involved in higher brain functions, such as cognition, learning and memory, and their molecular role is the subject of intense investigation. Here, we review recent findings concerning a representative group of XLID proteins: the fragile X mental retardation protein; methyl-CpG-binding protein 2 and cyclin-dependent kinase-like 5 proteins, which are involved in Rett syndrome; the intracellular signaling molecules of the Rho guanosine triphosphatases family; and the class of cell adhesion molecules. We discuss how XLID gene mutations affect the structure and function of synapses.
Orphanet Journal of Rare Diseases · 2011 · 31 citations · open access
X-linked disorders with cerebellar dysgenesis
AbstractX-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or genomic imbalances on the X-chromosome. The neurological features of XLCD include hypotonia, developmental delay, intellectual disability, ataxia and/or other cerebellar signs. Normal cognitive development has also been reported. Cerebellar dysgenesis may be isolated or associated with other brain malformations or multiorgan involvement. There are at least 15 genes on the X-chromosome that have been constantly or occasionally associated with a pathological cerebellar phenotype. 8 XLCD loci have been mapped and several families with X-linked inheritance have been reported. Recently, two recurrent duplication syndromes in Xq28 have been associated with cerebellar hypoplasia. Given the report of several forms of XLCD and the excess of males with ataxia, this group of conditions is probably underestimated and families of patients with neuroradiological and clinical evidence of a cerebellar disorder should be counseled for high risk of X-linked inheritance.
AbstractCerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy.It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia.In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes.In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.
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.
