DeCure for Congenital myopathy 4B, autosomal recessive
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 4B, autosomal recessive — 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 moduleCongenital myopathy 4B, autosomal recessive 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 congenital myopathy 4b, autosomal recessive 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
tropomyosin 3 (TPM3) — TPM3 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 6OTN · 2.4 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2007 review of congenital myopathy research noted that in the preceding year, genes had been discovered for some congenital myopathies for the first time, including beta-tropomyosin in cap disease and possibly skeletal muscle alpha-actin in Zebra body myopathy. Further genes were identified for conditions where other genes were already known, such as cofilin in nemaline myopathy and selenoprotein N in congenital fibre type disproportion. Recessive myosin storage myopathy was associated with a homozygous mutation of slow-skeletal/beta-cardiac myosin, which was already known to be mutated in dominant myosin storage myopathy. The review stated that increased understanding of the genes and pathobiology should ultimately lead to effective treatments, but no specific treatment or drug was described.
A 2021 report described two patients from South Asia with novel homozygous MYPN mutations causing nemaline rod/cap myopathy, a form of congenital myopathy. These were the tenth and eleventh cases reported in the English literature. The clinical phenotype was described as a mild form of nemaline rod/cap myopathy, slowly progressive. No treatment or drug intervention was tested or reported in this study.
A 2010 study described autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the alpha slow-tropomyosin gene. The report characterised the disorder as having onset in childhood, reduced muscle bulk, varying degrees of weakness, and usually slow progression. No drug or treatment was investigated.
Across these abstracts, no drug is mentioned for any form of congenital myopathy 4B or related conditions. No clinical trial, no survival data, no response rates, and no sample sizes for any intervention are provided. The literature reviewed here consists entirely of genetic and pathological characterisation, with no therapeutic testing. What is missing is any funded clinical trial, any drug candidate advanced to human testing, and any patient stratification that might identify a subset responsive to a specific agent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Neurology · 2007 · 45 citations
Congenital myopathies
AbstractPURPOSE OF REVIEW: The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research. RECENT FINDINGS: In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/beta-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. There has been further clarification of the pathobiology of the congenital myopathies, including determination of the basis of epigenetic effects: silencing of the normal allele in recessive central core disease and persistence of cardiac (fetal) alpha-actin in nemaline myopathy patients with no skeletal actin. SUMMARY: The increased understanding of the genes and pathobiology of the congenital myopathies that is developing should ultimately lead to effective treatments.
Journal of Clinical Neurology · 2021 · 2 citations · open access
Nemaline Rod/Cap Myopathy Due to Novel Homozygous <i>MYPN</i> Mutations: The First Report from South Asia and Comprehensive Literature Review
AbstractBACKGROUND AND PURPOSE: ) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature. METHODS: -related cap myopathy. Genetic analysis was performed using whole-exome sequencing. MRI was performed on a 1.5-T device in patient 1. RESULTS: : c.1973+1G>C (patient 1) and c.1974-2A>C (patient 2). CONCLUSIONS: pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.
Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene
AbstractCongenital myopathies are a heterogenous group of inherited disorders with onset in childhood. Clinically these disorders are characterised by reduced muscle bulk, varying degrees of weakness and usually slow progression. Most congenital myopathies display a striking histomorphological abnormality that defines the condition, like nemaline rods in nemaline 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.
