DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for nemaline myopathy 9 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleNemaline myopathy 9 maps to a 1-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 nemaline myopathy 9 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
Nemaline myopathy is a group of congenital myopathies defined by muscle weakness and the presence of nemaline rods in muscle biopsy. At least twelve causative genes are known, encoding structural or regulatory proteins of the thin filament, and the clinical and histological picture varies widely. A 2023 study of Brazilian patients notes that more than 15 genes are now linked to nemaline myopathy, including NEB, ACTA1, TPM3, TPM2, TNNT1, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYO18B, MYPN, RYR3, TTN3, ADSSL1, Filamin C and MYH2. The same paper states there are no national studies with a large cohort of Brazilian nemaline patients.
A 2018 study tested therapies in a novel nebulin nemaline myopathy model using Tg(neb-/-; Lifeact-eGFP) zebrafish. The supplementary data include toxicity analyses for treatment with taurine, L-carnitine and creatine, and quantification of distance travelled and average speed at 6 days post-fertilisation. The title of the paper states there was a lack of efficacy for these therapies in the model.
A 2021 review summarises pathogenesis from mutations in each causative gene and provides perspectives on pathogenetic mechanisms possibly open to therapeutic modalities. It does not report any clinical trial results or specific drug efficacy data.
What is still missing are large, well-phenotyped patient cohorts for natural history studies, validated outcome measures for clinical trials, and any drug that has shown efficacy in a controlled human trial for nemaline myopathy. Funding for preclinical drug screening and for multi-centre trial infrastructure remains insufficient. Patient stratification by genetic subtype is not yet standardised in trial design.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neuromuscular Disorders · 2021 · 85 citations · open access
Recent advances in nemaline myopathy
AbstractThe nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding structural or regulatory proteins of the thin filament, and the clinical picture as well as the histological appearance on muscle biopsy vary widely. Here, we suggest a renewed clinical classification to replace the original one, summarise what is known about the pathogenesis from mutations in each causative gene to the forms of nemaline myopathy described to date, and provide perspectives on pathogenetic mechanisms possibly open to therapeutic modalities.
Additional file 1: of Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
AbstractSupplementary data for Testing of therapies in a novel nebulin nemaline myopathy model demonstrates and lack of efficacy. Figure S1: Characterisation of Tg(neb-/-; Lifeact-eGFP) fish. Figure S2-S4: Toxicity analyses for treatment of wildtype zebrafish with taurine, L-carnitine and creatine. Figure S5-S6: Quantification of distance travelled and average speed at 6 dpf. Figure S7: Quantification of the phenotypic severity at 6 dpf. Figure S8: Characterisation of facial muscles at 6 dpf. (PDF 7847 kb)
Arquivos de Neuro-Psiquiatria · 2023 · 0 citations · open access
Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization
AbstractBackground: Nemaline myopathy (NM) is one of the most common structural congenital myopathies, with a significant clinical and genetic heterogeneity. Nowadays, more than 15 genes are related to NM, including TPM3, NEB, ACTA1, TPM2, TNNT1, KBTBD13, CFL2 (COFILIN2), KLHL40, KLHL41, LMOD3, MYO18B, MYPN, RYR3, TTN3, ADSSL1, Filamin C and MYH2. Most of these genes encode structural or regulatory proteins associated with the thin filament in the skeletal muscle fiber. NM is considered a rare condition and there are no national studies with a large choort of Brazilian nemaline patients.
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.
