DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for myofibrillar myopathy 1 — 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 moduleMyofibrillar myopathy 1 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 myofibrillar myopathy 1 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.
What the evidence adds up to
The 2008 study of 46 patients with myofibrillar myopathy found that distinct muscle imaging patterns can separate genetic subtypes. In desminopathy, the semitendinosus was at least as affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior; these criteria had 100% sensitivity and 95% specificity for desminopathy in that cohort. In myotilinopathy, the adductor magnus showed more alterations than the gracilis, and the sartorius was at least as affected as the semitendinosus (sensitivity 90%, specificity 93%). In filaminopathy, the biceps femoris and semitendinosus were at least as affected as the sartorius, and the medial gastrocnemius was more affected than the lateral gastrocnemius (sensitivity 88%, specificity 96%). Early adult onset and cardiac involvement were most often associated with desminopathy; filaminopathy typically began in the fifth decade with proximal weakness, while myotilinopathy presented after age 50 with distal weakness.
A 1984 study measured myofibrillar protein catabolism in 50 young patients with Duchenne muscular dystrophy using urinary 3-methylhistidine excretion. The catabolic rate was about seven times that of controls, expressed as the percentage of myofibrillar protein catabolised per day. The authors suggested that inhibition of protein degradation might be a possible treatment approach for Duchenne muscular dystrophy, not for myofibrillar myopathy.
A 2019 review of drug-induced myopathy noted that many commonly used medications can cause acute or subacute muscle adverse effects, ranging from asymptomatic creatine kinase elevation and myalgias to life-threatening rhabdomyolysis. The review did not address myofibrillar myopathy specifically.
A 2021 review described myofibrillar myopathy as a pathologically defined group of disorders sharing myofibril dissolution, accumulation of degradation products, and ectopic protein expression. Patients present with progressive proximal or distal weakness beginning from childhood to late adulthood; cardiomyopathy and peripheral neuropathy are frequent. Mutations in more than 10 genes, most encoding Z-disc proteins or proteins involved in chaperone-assisted selective autophagy, underlie the condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology · 2008 · 261 citations · open access
Distinct muscle imaging patterns in myofibrillar myopathies
AbstractOBJECTIVE: To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders. METHODS: Muscle imaging and clinical findings of 46 patients with MFM were evaluated (19 desminopathy, 12 myotilinopathy, 11 filaminopathy, 1 alphaB-crystallinopathy, and 3 ZASPopathy). The data were collected retrospectively in 43 patients and prospectively in 3 patients. RESULTS: In patients with desminopathy, the semitendinosus was at least equally affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior (sensitivity of these imaging criteria to detect desminopathy in our cohort 100%, specificity 95%). In most of the patients with myotilinopathy, the adductor magnus showed more alterations than the gracilis muscle, and the sartorius was at least equally affected as the semitendinosus (sensitivity 90%, specificity 93%). In filaminopathy, the biceps femoris and semitendinosus were at least equally affected as the sartorius muscle, and the medial gastrocnemius was more affected than the lateral gastrocnemius. The semimembranosus mostly showed more alterations than the adductor magnus (sensitivity 88%, specificity 96%). Early adult onset and cardiac involvement was most often associated with desminopathy. In patients with filaminopathy, muscle weakness typically beginning in the 5th decade of life was mostly pronounced proximally, while late adult onset (>50 years) with distal weakness was more often present in myotilinopathy. CONCLUSIONS: Muscle imaging in combination with clinical data may be helpful for separation of distinct myofibrillar myopathy subtypes and in scheduling of genetic analysis.
Increased myofibrillar protein catabolism in duchenne muscular dystrophy measured by 3‐methylhistidine excretion in the urine
AbstractMyofibrillar protein catabolic rate was calculated in 50 young patients with Duchenne muscular dystrophy from the amount of 3-methylhistidine excreted in the urine, and was found to be about seven times that of a control series, expressed as the percentage of myofibrillar protein catabolized per day. This wastage of myofibrillar protein is a consequence of Duchenne muscular dystrophy and inhibition of protein degradation appears to be one possible approach in the treatment of this disease.
Indian Journal of Rheumatology · 2019 · 2 citations · open access
Drug-Induced Myopathy
AbstractA number of medications, including very commonly used ones, have been described as causing myopathy. Drug-induced myopathy is defined as an acute or subacute adverse effect of a drug on the muscular system, which may range from asymptomatic increase in serum creatine kinase and simple myalgias to life-threatening rhabdomyolysis. It is necessary for the treating physician to recognize these manifestations early and manage promptly; in order to prevent treatment-related morbidity and mortality. A PubMed search was conducted using the MeSH terms “drug AND myopathy” and “drug AND rhabdomyolysis.” The consensus of the authors was sought to finalize a group of 60 articles for further review. With the large number of drugs available to the treating physician today, and the significant drug interactions that can occur, knowledge about the various drugs causing myopathy, their characteristic features if any, and the optimal management of these adverse effects is imperative.
Neurology Genetics · 2021 · 0 citations · open access
A Window Into the Myofibrillar Myopathy Proteome
AbstractMyofibrillar myopathy is a pathologically diagnosed myopathy encompassing a clinically and genetically heterogeneous group of myopathies that share common histopathologic features of dissolution of myofibrils, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins.1 Patients with myofibrillar myopathy present with progressive proximal or distal predominant weakness at a variable age at onset, ranging from childhood to late adulthood. Cardiomyopathy and peripheral neuropathy are frequent extramuscular manifestations. To date, mutations in more than 10 genes underlie myopathies with myofibrillar pathology, most of which encodes Z disc–associated proteins or proteins involving in chaperon-assisted selective autophagy.1
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.
