DeCure for Spinocerebellar ataxia, autosomal recessive 29
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for spinocerebellar ataxia, autosomal recessive 29 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSpinocerebellar ataxia, autosomal recessive 29 maps to a 2-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 spinocerebellar ataxia, autosomal recessive 29 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
asparagine synthetase (glutamine-hydrolyzing) (ASNS) — ASNS 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 onldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6GQ3 · 1.85 Å · ligand 5-OXO-L-NORLEUCINE (ONL). Experimental structure, not a prediction.
What the evidence adds up to
The 2011 review notes that the causative mutations for more than 30 spinocerebellar ataxias and 20 recessive ataxias had been identified by that time. The same review states plainly that effective therapies for ataxias were still lacking. No drug is mentioned in any of the three abstracts. The 1988 abstract provides only diagnostic criteria, specifically that normal development through the first 6 or 18 months was regarded as necessary and that intrauterine growth retardation and microcephaly at birth were thought to exclude the diagnosis. The 2014 abstract describes the diagnostic difficulty: because no clear phenotype-genotype correlation exists, associated symptoms such as cognitive deficits, epilepsy, oculomotor disturbances, or peripheral neuropathies do not help to find the right diagnosis, and the path from suspicion to genetic confirmation is often long and expensive.
No abstract reports a clinical trial, a response rate, a survival figure, or any treatment outcome for autosomal recessive spinocerebellar ataxia 29 or any other ataxia. The 2011 review mentions that novel drug targets were under investigation and that an increasing number of therapeutic trials was expected, but it gives no concrete results. The 1988 and 2014 abstracts contain no treatment data at all.
What is still missing is any completed or ongoing therapeutic trial specifically for autosomal recessive spinocerebellar ataxia 29, any identified drug target for that subtype, and any patient stratification or natural history data for the condition. The diagnostic pathway remains expensive and slow, and no therapy has been tested.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Movement Disorders · 2011 · 94 citations · open access
Milestones in ataxia
AbstractThe past 25 years have seen enormous progress in the deciphering of the genetic and molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The most significant milestones during this period were the cloning of the genes associated with the common spinocerebellar ataxias, ataxia telangiectasia, and Friedreich ataxia. To date, the causative mutations of more than 30 spinocerebellar ataxias and 20 recessive ataxias have been identified. In addition, there are numerous acquired ataxias with defined molecular causes, so that the entire number of distinct ataxia disorders exceeds 50 and possibly approaches 100. Despite this enormous heterogeneity, a few recurrent pathophysiological themes stand out. These include protein aggregation, failure of protein homeostasis, perturbations in ion channel function, defects in DNA repair, and mitochondrial dysfunction. The clinical phenotypes of the most common ataxia disorders have been firmly established, and their natural history is being studied in ongoing large observational trials. Effective therapies for ataxias are still lacking. However, novel drug targets are under investigation, and it is expected that there will be an increasing number of therapeutic trials in ataxia.
Abstractin April 1988 were separated into 1) necessary, 2)supportive, and 3) exclusion categories.Normal development through the first 6 or 18 months was regarded as a necessary criterion and intrauterine growth retardation and microcephaly at birth were thought to exclude the diagnosis.
Spinocerebellar Ataxia: Finding the Diagnosis with Whole Exome Sequencing
AbstractSpinocerebellar ataxias are a group of clinically rather similar, but genetically very heterogeneous illnesses (currently more than 30 genes causing these ataxias are known). Because no clear phenotype-genotype correlation exists, associated symptoms such as cognitive deficits, epilepsy, oculomotor disturbances, or peripheral neuropathies do not really help to find the right diagnosis. Therefore, the way from the suspicion of a spinocerebellar ataxia to the confirmation by a genetic finding is often long and expensive.
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.
