DeCure for Early-onset myopathy with fatal cardiomyopathy
DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for early-onset myopathy with fatal cardiomyopathy — 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 moduleEarly-onset myopathy with fatal cardiomyopathy 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 early-onset myopathy with fatal cardiomyopathy 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
LDL receptor related protein 4 (LRP4) — LRP4 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8S9P · 3.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The 2001 report describes a severe autosomal recessive form of rippling muscle disease that includes fatal arrhythmic cardiomyopathy and delayed bone age, a combination not previously associated with rippling muscle disease. Mortality had not been reported in earlier cases. A 2022 review of nuclear envelope myopathies notes that age at onset and clinical features are variable, but careful management of cardiac symptoms, including lethal arrhythmia and cardiomyopathy, is critical for prognosis. A 2016 commentary observes that while dilated cardiomyopathy usually carries a grave prognosis, a few cases are acute, fulminant, and potentially reversible; similarly, some myopathies with acute fulminant onset may be reversible, and researchers recommend looking for a reversible cause when such a myopathy is found.
A 2025 case report describes a 72-year-old woman with anti-signal recognition particle myopathy, an immune-mediated necrotising myopathy that can involve fatal cardiac disease. Her cardiomyopathy and pericardial effusion could not be controlled with prednisolone and tacrolimus, but improved with intensified therapy using intravenous immunoglobulin. The authors suggest early intensification of IVIG may improve prognosis. A 2011 review of isolated noncompacted left ventricular cardiomyopathy states that the condition affects mainly young adults, can cause death from heart failure, thromboembolism, or fatal arrhythmia, and that treatment is most effective when started early, consisting of preventing heart failure and emboli and decreasing arrhythmia incidence.
No drug is tested in a controlled trial for early-onset myopathy with fatal cardiomyopathy as a single entity. The 2025 case is one patient with a different antibody-defined myopathy. The 2001 and 2022 reports do not test any treatment. What is missing is a specific, genetically or biomarker-defined patient population for a trial, funding for such a trial, and any evidence that a particular drug alters the course of the fatal cardiomyopathy described in the 2001 report.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Severe autosomal recessive rippling muscle disease
AbstractRippling muscle disease (RMD) has previously been reported as a skeletal myopathy that was attributed to a defect in the sarcomere. Here we report a new form of RMD that is more severe, characterized by fatal arrhythmic cardiomyopathy and delayed bone age. Mortality has previously not been associated with RMD. With this report we hope to raise awareness that a subset of patients with this clinical entity are predisposed to severe cardiac disease.
Neurology and Clinical Neuroscience · 2022 · 3 citations
Nuclear envelope myopathy
AbstractAbstract Nuclear envelope (NE) is a term of the structure surrounding each nucleus of the cell and has many important functions including maintaining chromatin organization. Mutations in the genes encoding NE proteins are known to cause several diseases including myopathies. The age at onset and clinical features of NE myopathy are quite variable, but careful management of associated cardiac symptoms including lethal arrhythmia and cardiomyopathy is critical for the prognosis. In this review, clinical characteristics of NE myopathies together with recent advances of their management is described.
MOJ Clinical & Medical Case Reports · 2016 · 1 citations
A Reversible Cardiomyopathy?
AbstractDilated cardiomyopathy is a diagnosis that usually carries a grave prognosis. However among the numerous cases of dilated cardiomyopathy lurk a few that are acute, fulminant and potentially reversible. It is a challenge for a cardiologist to suspect this and successfully treat one .It is gratifying when the patient recovers and goes home. Similarly myopathies are chronic debilitating diseases that are associated with considerable morbidity .It has been observed that some myopathies are reversible. The hall mark of such a myopathy is it’s acute fulminant onset. Researchers have recommended that whenever an acute onset myopathy is found a reversible cause should be looked for.
Internal Medicine · 2025 · 0 citations · open access
Anti-signal Recognition Particle Antibody-associated Myopathy with a Dermatomyositis-like Rash Successfully Treated for Concomitant Cardiac Involvement with Intravenous Immunoglobulin Therapy
AbstractAnti-signal recognition particle (SRP) myopathy has recently been regarded as immune-mediated necrotizing myopathy (IMNM). Anti-SRP myopathy primarily presents with muscle symptoms, but it can also involve extramuscular symptoms, among which cardiac disease can be fatal. Despite its potentially severe course, anti-SRP myopathy often resists conventional immunosuppressive therapy. A 72-year-old woman diagnosed with anti-SRP myopathy developed cardiomyopathy and pericardial effusion. The disease could not be controlled with prednisolone (PSL) and tacrolimus (TAC), but an improvement was achieved with intensified therapy using intravenous immunoglobulin (IVIG). Early intensification of IVIG may therefore improve the patient prognosis.
British Journal of Cardiac Nursing · 2011 · 0 citations
Isolated noncompacted left ventricular cardiomyopathy
AbstractIsolated noncompacted left-ventricular cardiomyopathy or left-ventricular noncompaction (LVNC) is a specific myopathy that was first recognized 25 years ago. It is congenital in origin and there are important characteristics of the syndrome that distinguish it from other types of cardiomyopathy. The exact genetic transmission is still being investigated. LVNC affects mainly young adults and the diagnosis is often made when the patient presents with symptoms of severe congestive heart failure. The condition can lead to death from heart failure, a thromboembolism, or a fatal arrhythmia. Treatment of this cardiomyopathy is most effective when started early, and consists of preventing heart failure and emboli, and decreasing the incidence of arrhythmias. Identification of affected families is needed as well as research about appropriate treatment modalities. This review aims to increase nurses' awareness of the condition, its diagnosis, and treatments
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.
