DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for tubular aggregate myopathy — screening already-approved drugs against its 5-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleTubular aggregate myopathy maps to a 5-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 tubular aggregate myopathy 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
calsequestrin 1 (CASQ1) — CASQ1 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 4rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3UOM · 2.02 Å · ligand (4R)-2-METHYLPENTANE-2,4-DIOL (MRD). Experimental structure, not a prediction.
What the evidence adds up to
A 1991 case report describes a man with acute myalgia and cramps whose muscle biopsy showed tubular aggregates. He was treated with prednisone and was exquisitely sensitive to the drug, with changes of only 5 mg precipitating recurrence of symptoms. He was eventually tapered off all steroids without symptoms, and a repeat biopsy showed no tubular aggregates. The authors recommend a trial of high-dose steroids in similar patients. No other patients were reported in that paper.
A separate 1991 study examined a case of myopathy with tubular aggregates using antibodies to cytoskeletal and heat shock proteins. Epitopes of the 72 kD heat shock protein were expressed in the areas of abnormality in that case and in a case of hypokalemic periodic paralysis with tubular aggregates. The authors suggest heat shock proteins may be involved in the pathogenesis of tubular aggregates.
A 2019 paper introduced a mouse model of tubular aggregate myopathy caused by a luminal EF-hand mutation in STIM1. That paper is a first-person interview with the PhD student who worked on the model, not a treatment study. No drug was tested in that model.
What is still missing: no controlled trial of steroids or any other drug in tubular aggregate myopathy has been published. The steroid response comes from a single patient. No prospective trial design, no patient stratification, and no funding for a formal clinical study have been reported.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Muscle & Nerve · 1991 · 40 citations
Expression of heat shock protein epitopes in tubular aggregates
AbstractTubular aggregates may be found in a variety of conditions and have been associated with a wide range of chemical and ischemic insults. We report clinical and histological features in a case of myopathy with tubular aggregates. The structure of these tubular aggregates was examined using antibodies to cytoskeletal proteins and heat shock proteins. Epitopes of the 72 kD heat shock protein were expressed in the areas of abnormality in this case and in a case of hypokalemic periodic paralysis with tubular aggregates. Heat shock proteins have a role in the modulation of the tertiary structure of proteins and may be involved in the pathogenesis of tubular aggregates and other microtubular abnormalities in muscle.
AbstractWe report a man with an acute myalgia/cramp syndrome and tubular aggregates on his muscle biopsy. He was placed on prednisone and was found to be exquisitely sensitive to the drug, with changes of only 5 mg precipitating recurrence of symptoms. He was eventually tapered off all steroids, without symptoms, and repeat biopsy showed no tubular aggregates. We recommend similar patients be given a trial of high-dose steroids.
AbstractABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Celia Cordero-Sanchez is joint first author on ‘A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy’, published in DMM. Celia is a PhD student in the lab of Armando Genazzani at the University of Piemonte Orientale, investigating a mouse model of tubular aggregate myopathy.
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.
