DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for progressive myoclonus epilepsy — screening already-approved drugs against its 6-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleProgressive myoclonus epilepsy maps to a 6-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
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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 progressive myoclonus epilepsy 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
potassium voltage-gated channel subfamily C member 1 (KCNC1) — KCNC1 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 5rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8QUD · 2.5 Å · ligand (5R)-5-ethyl-3-(6-spiro[2H-1-benzofuran-3,1'-cyclopropane]-4-yloxypyridin-3-yl)imidazolidine-2,4-dione (WY0). Experimental structure, not a prediction.
What the evidence adds up to
In an open-label study from 2001, 11 patients with progressive myoclonus epilepsy received piracetam as add-on therapy, starting at 3.2 g per day and increasing up to 20 g per day. Statistically significant improvement in a total rating score for motor impairment, functional disability, and global disability due to myoclonus was seen at the first, sixth, and twelfth months of treatment. The authors report that efficacy increased during the first 12 months and then stabilised. Severity of other neurological symptoms — seizure frequency, dysarthria, gait ataxia — did not improve significantly. Two patients reported drowsiness in the first two weeks. A 1993 review notes that piracetam and 5-hydroxy-L-tryptophan were then available only through clinical-research protocols, and states plainly that there is no cure for progressive myoclonus epilepsy.
Earlier descriptive work from 1971 on 90 children with myoclonic epilepsy found that 73.3% had other seizure types and 75.6% had mental retardation. Ataxia or cerebellar dysfunction was seen in 26.7% of patients, often transient or recurring. The authors concluded that myoclonic epilepsy is not a single entity but can be divided into several syndromes. A 1982 study of 19 hospitalised adults with progressive myoclonus epilepsy divided patients into three severity groups based on ability of daily living, amount of spontaneous myoclonus, IQ, and psychomotor reaction time. The authors found that deterioration was individual and could even cease, and that the disease differed clearly from many hereditary neurometabolic and storage diseases. A 2013 review on the pathophysiology of cortical myoclonus notes that cortical myoclonus is closely associated with epilepsy but does not report any treatment data.
What is still missing is a randomised controlled trial of piracetam in progressive myoclonus epilepsy with sufficient sample size and long-term follow-up; the existing evidence comes from an open-label study of 11 patients. No trial has established whether any drug alters the underlying progression of the disease rather than temporarily suppressing myoclonus. Patient stratification by genetic subtype or stage of disease has not been tested in a controlled setting. Funding for such trials remains scarce.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Neurology · 2001 · 73 citations
Long-term Efficacy and Safety of Piracetam in the Treatment of Progressive Myoclonus Epilepsy
AbstractBACKGROUND: Piracetam has been proven to be effective and well tolerated in the treatment of myoclonus in short-term studies. OBJECTIVE: To assess its long-term clinical efficacy, 11 patients with disabling myoclonus due to progressive myoclonus epilepsy were treated with piracetam in an open-label study. METHODS: Neurologic outcome (at the 1st, 6th, 12th, and 18th month of treatment) was assessed by an adjusted sum score of the following 3 indices: motor impairment, functional disability, and global assessment of disability due to myoclonus. Severity of other neurologic symptoms (seizure frequency and severity, dysarthria, and gait ataxia) also was assessed. Treatment with piracetam was initiated at a dose of 3.2 g/d that was gradually increased until stable benefit was noted (maximal dose in the trial was 20 g/d). Concomitant antiepileptic drugs were maintained at their previous dose. RESULTS: Statistically significant improvement in the total rating score was observed after introduction of piracetam at the 1st, 6th, and 12th month of treatment. Severity of other neurologic symptom scores did not improve significantly. Two patients reported drowsiness during the first 2 weeks of treatment. CONCLUSIONS: Piracetam given as add-on therapy seems to be an effective, sustained, and well-tolerated treatment of myoclonus. In patients with progressive myoclonus epilepsy, the efficacy of the drug increased during the first 12 months of treatment and then stabilized.
Abstract90 cases of myoclonic epilepsy in childhood have been presented. The myoclonus was associated with several EEG patterns e. g. short 3-per-second irregular EEG bursts, longer bursts at the same rhythm or 2-per-second complexes. Other seizures were associated with the myoclons in 73.3% of cases and mental retardation was noted in 75.6% of patients. It is proposed that myoclonic epilepsy is not a homogeneous entity but might be divided into several syndromes. Myoclonic epilepsy with fixed or progressive neurological abnormalities was present in 24 patients. Brain dysfunction was progressive in 9 of these. Ataxia or cerebellar dysfunction was observed in 24 patients (26.7%). This was most often a transient and sometimes recurring phenomenon. Myoclonic epilepsy without permanent neurological anomalies has been further separated into 4 subgroups according to the clinical and EEG pattern. Zusammenfassung In dieser Studie werden 90 Kinder mit myoklonischen Anfällen beschrieben. Die Myoklonien waren von verschiedenen EEG-Mustern begleitet, zum Beispiel kurzen irregulären 3-Sekunden-Spitzwellen, längerdauernde Paroxysmen der gleichen Art oder 2-Sekunden-Spitzwellen. In 73,3% der Fälle wurden auch andere als myoklonische Anfälle beobachtet und 75,6% der Kinder waren in ihrer geistigen Entwicklung retardiert. Die myoklonischen Anfälle des Kindesalters sind keine Krankheitseinheit. In 24 Fällen handelt es sich um eine fortschreitende degenerative Erkrankung, in neun anderen Fällen war der Verlauf progressiv. Ataxien oder cerebelläre Dysfunktionen wurden bei 24 Patienten (26,7%) beobachtet. Diese Störungen waren meistens vorübergehend, gelegentlich rezidivierend. Kindliche myoklonische Anfälle ohne dauerhafte neurologische Anomalien konnten aufgr und der klinischen und EEG-Befunde in vier Untergruppen unterteilt werden. Keyword Epilepsy - myoclonus - electroencephalogram
Clinical stages of progressive myoclonus epilepsy in adult patients
AbstractNineteen hospitalized adult patients with progressive myoclonus epilepsy were studied. According to their clinical status they were divided into three groups of severity. The ages and duration of the disease did not differ significantly between the groups. The groups showed significant differences in ability of daily living, amount of spontaneous myoclonus, IQ and psychomotor reaction time. In EEG the groups differed in respect to the dominant occipital rhythm and amount of myoclonic spikes but not in respect to universal paroxysms. Myoclonic spikes and paroxysms in EEG were only loosely related. The results yield a conclusion that the deterioration caused by the disease is individual and the progression may even cease. In this respect progressive myoclonus epilepsy differs clearly from many hereditary neurometabolic and storage diseases.
The Clinical Challenge pf Progressive Myoclonus Epilepsy
AbstractHealth care providers who care for patients with seizure disorders should be able to recognize progressive myoclonus epilepsy. Progressive myoclonus epilepsy is a syndrome confused with myoclonic seizures and other epilepsies. The main symptom is myoclonus, a brief involuntary muscle jerk of varying intensity that can throw a patient against a wall or to the ground. This article describes major types of progressive myoclonus epilepsy, a typical case presentation and two clinical drug trials available for these patients. The focus of clinical drug trials is to identify a drug that controls the myoclonus and improves the quality of life for the affected individual. There is no cure for patients with progressive myoclonus epilepsy. 5-hydroxy-L-tryptophan and piracetam are two drugs available through clinical-research protocols to patients with progressive myoclonus epilepsy.
AbstractMyoclonus is one of the common movement disorders in clinical practice, and its differential diagnosis is important. Usually, myoclonus can be classified into cortical, subcortical, brain stem, spinal and peripheral, based on its pathogenesis. Especially, cortical myoclonus is closely associated with epilepsy (myoclonic epilepsy) and has been studied extensively so far. Here, we will review the pathogenesis of cortical myoclonus from the viewpoint of clinical neurophysiology.
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.
