DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for episodic ataxia type 6 — 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 moduleEpisodic ataxia type 6 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 episodic ataxia type 6 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
calcium voltage-gated channel subunit alpha1 A (CACNA1A) — CACNA1A 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 clrdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8X93 · 2.92 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
Episodic ataxia type 6 is one of the inherited cerebellar ataxias, a group that also includes autosomal dominant spinocerebellar ataxias, autosomal recessive forms, and X-linked ataxias. The clinical diagnosis of these subtypes is complicated by substantial overlap of phenotypes between genetic subtypes. A review of 63 ataxia patients from a specialised movement disorders centre found that 22 had a genetic ataxia, 27 had sporadic ataxia, and 14 had acquired ataxia. The mean age at presentation for genetic ataxia was 24 years, compared with 46 for acquired and 53 for sporadic forms. In that cohort all autosomal dominant ataxias were type 3 spinocerebellar ataxia, and Friedreich’s ataxia was the most common recessive form.
No abstract in this set reports any clinical trial of a drug for episodic ataxia type 6 specifically, or for any episodic ataxia subtype. The 2009 review notes that therapeutic agents under investigation for cerebellar ataxias are for the first time targeted to deleterious pathways, but gives no drug names, no response rates, and no survival data. The 2011 review states that ataxias are rare diseases, that individual entities are even rarer, and that substantial numbers of patients remain poorly understood. It points to the need for large numbers of patients for clinical trials, cooperative efforts, better assessment tools, and novel trial designs.
A 2025 analysis of placebo group data from past trials in Friedreich ataxia found notable placebo responses in appendicular items of the modified Friedreich’s Ataxia Rating Scale, with minimal changes in axial function. The placebo effect increased with the number of consecutive tests, shorter testing intervals, and older group ages. The authors propose the Upright Stability Score, a sub-score of the scale, as a more independent measure. This placebo response complicates outcome interpretation and may obscure genuine treatment effects in ataxia trials generally.
What is still missing for episodic ataxia type 6 are any published clinical trials, any tested drug, any validated outcome measure specific to the condition, and any patient stratification strategy. The rarity of the disease and the heterogeneity of ataxias mean that cooperative multicentre efforts and novel trial designs are needed, but funding and coordinated infrastructure remain absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Neurology · 2009 · 187 citations
Cerebellar ataxias
AbstractPURPOSE OF REVIEW: The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. The clinical diagnosis of subtypes of ataxias is complicated by the salient overlap of the phenotypes between genetic subtypes. The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for effective therapies in neurodegenerative ataxias. RECENT FINDINGS: We describe the current classification of cerebellar ataxias and underline the recent discoveries in molecular pathogenesis. Cerebellar disorders can be divided into sporadic forms and inherited diseases. Inherited ataxias include autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias/spinocerebellar ataxia) and episodic ataxias, and X-linked ataxias. From a motor control point of view, the leading theories of ataxia are based on neural representations or 'internal models' to emulate fundamental natural processes such as body motion. SUMMARY: Recent molecular advances have direct implications for research and daily practice. We provide a framework for the diagnosis of ataxias. For the first time, the therapeutic agents under investigation are targeted to deleterious pathways.
Revista médica de Chile · 2018 · 6 citations · open access
Características clínicas de 63 pacientes con ataxia
AbstractBACKGROUND: Ataxia can be classified as genetic, sporadic or acquired. AIM: To report the clinical features of a group of patients with ataxia. MATERIAL AND METHODS: Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of "ataxia" or "ataxic syndrome" appeared, were selected for the review. RESULTS: Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed. RESULTS: Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrich's ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype. CONCLUSIONS: Considering the heterogeneity of patients with ataxia, we propose a method to approach them.
AbstractAtaxias are rare diseases and the etiologic heterogeneity make individual entities even rarer. There are still substantial numbers of patients who are still poorly understood. Available assessment techniques still point to large numbers of patients needed for clinical trials and the need for cooperative efforts, better assessment tools and novel trial designs. Better understanding of neural circuitry abnormalities may lead to more effective symptomatic therapy. Opportunities exist for targeting at risk individuals for effective therapies but how this can be done is not clear. Preventive strategies may become feasible in many ataxias.
Annals of Clinical and Translational Neurology · 2025 · 0 citations · open access
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
AbstractThe placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective subscores of the modified Friedreich Ataxia Rating Scale (mFARS). The effect increased with the number of consecutive tests, shorter testing intervals, and older group ages. This has implications for trial design and endpoint selection, thus strengthening the utility of the Upright Stability Score (USS), a sub-score of mFARS, as an independent measure.
AbstractThe cupboard is bare when it comes to the symptomatic treatment of ataxia. These authors report apparent success with varenicline, initially given for smoking cessation to a 64-year-old man with prominent ataxia due to fragile X tremor/ataxia syndrome (FXTAS), a 9-year history of tremor, and a 4-year history of gait ataxia with falling. After taking 1 mg of varenicline twice daily for 1 week, he noted a striking …
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.
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