DeCure for Action myoclonus-renal failure syndrome
DeCure's autonomous Nephrology AI scientist is researching a drug-repurposing hypothesis for action myoclonus-renal failure syndrome — 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 moduleAction myoclonus-renal failure syndrome 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 action myoclonus-renal failure 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.
Molecular view
scavenger receptor class B member 2 (SCARB2) — SCARB2 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 m6ddrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4Q4F · 2.8 Å · ligand 6-O-phosphono-beta-D-mannopyranose (M6D). Experimental structure, not a prediction.
What the evidence adds up to
A 2011 review states that all patients with action myoclonus-renal failure syndrome develop action myoclonus and seizures, and that levetiracetam has been used for these patients, with other derivatives then in clinical trials. The same review notes that renal biopsy specimens showed focal glomerulosclerosis in all patients examined, with features of collapsing glomerulopathy in some. A 2004 paper describes the syndrome as presenting in the second and third decades of life with renal, neurological or combined features; tremor is usually followed by progressively disabling myoclonus on voluntary movement, cerebellar signs, infrequent generalised seizures, and preserved cognitive function. Renal disease presents as proteinuria and progresses to renal failure, with renal biopsy revealing collapsing glomerulopathy, a severe variant of focal segmental glomerulosclerosis. A 2016 case report describes a young man with consanguineous parents, no family history of nephrotic syndrome or end-stage renal failure, who presented with late-diagnosed nephrotic syndrome and progressive myoclonic seizures with action myoclonus; renal biopsy showed focal segmental glomerulosclerosis with collapsing glomerulopathy, and he died at 25 years of age with end-stage renal function.
A 2012 review of antibiotic-induced myoclonus in patients with renal failure is not specific to action myoclonus-renal failure syndrome but reports that among 22 patients with antibiotic-induced myoclonus, 55% had underlying chronic kidney disease, 68% received overdoses of antibiotics, 71% completely recovered after discontinuing or decreasing the dose, 24% died of underlying conditions or unknown causes, and only one had persistent myoclonus. A 2023 case report describes an 84-year-old man on haemodialysis whose drug-resistant myoclonus was significantly alleviated after slightly increasing the post-dialysis target weight, even though drug treatment was ineffective. A 2023 paper on bronchopulmonary features in chronic kidney disease does not address action myoclonus-renal failure syndrome.
What is still missing is a controlled trial of any drug, including levetiracetam, specifically in patients with action myoclonus-renal failure syndrome; the evidence for levetiracetam is limited to a mention in a review without patient numbers or response rates. There is no trial design that accounts for the rarity of the condition, and no funding source dedicated to testing interventions in this defined genetic population. Patient stratification by genetic mutation or by stage of renal and neurological disease has not been attempted in a prospective study.
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 Neurologist · 2012 · 7 citations
Gentamicin-induced Myoclonus
AbstractINTRODUCTION: Drug-induced myoclonus is a diagnosis of exclusion. Various drugs have been reported to induce myoclonus. Antibiotic-induced myoclonus (AIM) is very rare. We describe a case of multifocal myoclonus secondary to gentamicin toxicity and review the literature of AIM. CASE REPORT: A 59-year-old woman with end-stage renal disease developed generalized multifocal myoclonus within 1 hour after receiving only 1 supratherapeutic dose of gentamicin for a potential hemodialysis catheter infection. Myoclonus was completely resolved after 2 sessions of hemodialysis. We identified 22 patients of AIM in the literature. The median age of patients was 63 years. More than half of patients (12/22, 55%) had underlying chronic kidney disease. Cephalosporins were the most common drug class associated with AIM (12/22 patients; 55%). About two third of patients (15/22, 68%) received overdoses of antibiotics. Fifteen patients (71%) completely recovered after discontinuing or decreasing the dose of antibiotics. Five patients (24%) died of underlying medical conditions or of unknown etiology. Only 1 had persistent myoclonus. The potential mechanisms of AIM are discussed. CONCLUSIONS: AIM, although rare, should be considered as a potential cause of multifocal myoclonus in patients with advanced age or renal insufficiency. The prognosis of AIM appears favorable, with several cases resolving after withdrawal of the antibiotic.
Action myoclonus-renal failure syndrome: the definitive clinico-pathological description
AbstractThe causes of myoclonus are protean and often obscure; none more obscure than the action myoclonus–renal failure (AMRF) syndrome reported in four French Canadian patients from the province of Quebec by Andermann et al . in 1986. In their current paper, Andermann and colleagues transform this condition from a local rarity to one of global significance, identified in families from Canada, the USA, Cuba, Europe and Australia (Badhwar et al ., 2004). Patients in their series presented in the second and third decades of life with renal, neurological or combined features. Tremor was usually followed by the development of progressively disabling myoclonus on voluntary movement, coupled with cerebellar signs, infrequent generalized seizures, but preserved cognitive function. Renal disease presented as proteinuria and progressed to renal failure. Renal biopsy revealed collapsing glomerulopathy, a severe variant of focal segmental glomerulosclerosis that is more commonly seen in the setting of human immunodeficiency virus infection. …
Cambridge University Press eBooks · 2011 · 1 citations
Wilson disease
AbstractThis chapter presents the neurophysiology, pathophysiology, diagnostic testing for action myoclonus-renal failure syndrome (AMRF). AMRF is a form of progressive myoclonus epilepsy first described in four French-Canadian patients belonging to three apparently unrelated sibships living in different regions of Quebec. All patients with AMRF develop action myoclonus and seizures. Most of the patients showed diffuse cerebral and cerebellar atrophy, although some patients had normal computed tomography (CT) and magnetic resonance imaging (MRI) findings. The renal pathology based on renal biopsy specimens showed focal glomerulosclerosis in all patients examined, with features of collapsing glomerulopathy in some. Patients with AMRF have been reported to have normal or low normal β-GC in leukocytes, but very low levels in cultured fibroblasts, and elevated levels in serum. More recently, levetiracetam has been utilized for these patients, and other derivatives are now in clinical trials.
A Case of Drug-Resistant Myoclonus Improved by Only Slight Adjustment to the Hemodialysis Setting
AbstractMyoclonus, a rare complication in patients with end-stage renal disease, is typically ameliorated through hemodialysis. The present case concerns an 84-year-old male with chronic renal failure undergoing hemodialysis, presenting involuntary movements in his limbs, which gradually worsened from the initiation of hemodialysis without constant elevation of serum blood urea nitrogen and electrolytes levels. Surface electromyography revealed characteristic findings consistent with myoclonus. He was diagnosed with subcortical-nonsegmental myoclonus related to hemodialysis, and the myoclonus was significantly alleviated after slightly increasing the post-dialysis target weight even though drug treatment was ineffective. This case suggests that drug-resistant myoclonus in patients with renal failure may be improved by adjusting hemodialysis settings, even in cases of atypical dialysis disequilibrium syndrome.
DOAJ (DOAJ: Directory of Open Access Journals) · 2016 · 0 citations
Action Myoclonus and Renal Parenchymal Disease: A Case Report
AbstractProgressive myoclonic epilepsies are a devastating group of rare disorders. The case of a young man who presented with a late-diagnosed nephrotic syndrome, progressive myoclonic seizures with action myoclonus, is described in the present report. He was the fifth child of a consanguineous marriage, and there was no familial history of nephrotic syndrome or end-stage renal failure. Renal biopsy showed focal segmental glomerulosclerosis with collapsing glomerulopathy. The patient died at 25 years of age in a context of end-stage renal function consistent with nephrotic syndrome.
Texas Journal of Medical Science · 2023 · 0 citations · open access
Clinical and functional features of the bronchopulmonary system in chronic kidney disease
AbstractRenal failure is a syndrome of reduced kidney function. It can happen suddenly (acute) or gradually (chronic). A lot of blood loss, a drop in blood pressure due to a mechanical injury or blood transfusion that does not match the patient's blood group, electric shock, septic abortion, etc.; damage to the kidney parenchyma due to poisoning from drugs and other metal salts; Obstruction of the ureter by tumors or kidney stones, damage to both kidneys due to trauma can cause acute kidney failure.
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.
