DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy — screening already-approved drugs against its 27-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 maps to a 27-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 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
cholinergic receptor nicotinic alpha 1 subunit (CHRNA1) — CHRNA1 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 clrdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9DMS · 1.92 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
A Danish national cohort of 107 patients aged five years or older with congenital myopathy was prospectively assessed. The authors note that knowledge of overall and subtype prevalence and phenotype-genotype relationships is scarce, especially in adults. They report that mutations and less core histology were present in their cohort, possibly explained by the prospective design, older age of patients, and differences in genetic background. No specific prevalence figures or response rates are given in the abstract.
Congenital myopathies are a heterogeneous group of genetic muscle disorders with a relatively non-progressive clinical course, characterised by weakness and hypotonia of varying severity, and diagnosed mainly by clinical features and histological findings on muscle biopsy. A 2007 review notes that novel congenital myopathies have been suggested and new genes discovered, including beta-tropomyosin in cap disease and skeletal muscle alpha-actin in Zebra body myopathy, as well as cofilin in nemaline myopathy and selenoprotein N in congenital fibre type disproportion. The review states that increased understanding of genes and pathobiology should ultimately lead to effective treatments, but no such treatments are described.
A 2004 case report describes a female patient with centronuclear myopathy manifesting in the fifth decade of life with no prior family history, noted as a rare case of late adult-onset CNM. A 2010 report states that most congenital myopathies display a striking histomorphological abnormality that defines the condition, such as nemaline rods in nemaline myopathy. A 2009 review lists structured congenital myopathies including central core disease, multi-minicore disease, myotubular myopathies, centronuclear myopathy, nemaline myopathy, actin aggregate myopathy, desminopathy, a-Bcrystallinopathy, and hyaline body myopathy, as well as unstructured congenital fibre type disproportion. The review notes that X-linked myotubular myopathy is rapidly fatal in newborn boys.
A 2016 review states that until now, the main management of congenital myopathies was to alleviate complications arising from weakness of various muscle groups. No drug therapy, repurposed or otherwise, is mentioned in any of these abstracts. What is still missing is any trial of a pharmacological intervention, any funding for such a trial, and any stratification of patients by the specific genetic or histological subtype that might respond to a targeted 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.
Neurology Genetics · 2017 · 52 citations · open access
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark
AbstractOBJECTIVE: Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS: A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS: mutations. CONCLUSIONS: mutations and less core histology were present in our cohort. These differences may be explained by our prospective design, the older cohort of patients, and by differences in genetic background.
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.
Yonsei Medical Journal · 2004 · 2 citations · open access
A Case of Adult-Onset Centronuclear Myopathy
AbstractCentronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal form, the childhood onset form, and the adult onset form. This paper describes the case of a female patient with CNM, in whom the disease manifested itself in the fifth decade of life, without any prior family history of such disorders. To the best of our knowledge, this is a rare case of late adult-onset CNM.
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.
AbstractCongenital myopathies are a group of genetic muscle disorders with a relatively non-progressive clinical course, characterized by weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofibers.The diagnosis of congenital myopathies mainly based on characterized cli-nical manifestation and histological features on muscle biopsy.The genetic basis of many different forms of the congenital myopathies has been identified, while there are still more genes to be discovered.Until now, the main management of congenital myopathies was to alleviate complications arising from weakness of various muscle groups.
Key words:
Congenital myopathy; Diagnosis; Therapy
AbstractCongenital myopathies are reviewed by neuropathology researchers in New Delhi, India, and Mainz, Germany. The term 'congenital myopathy' (CM) was introduced with the discovery of 'central core disease,' a non-progressive myopathy described by Shy and Magee (1956). Molecular genetics, enzyme and immunohistochemical tests and electron microscopy have led to a better understanding of CM and their classification. CM is either structured or unstructured, with or without structural changes. Structured CM include, central core disease (autosomal dominant, mildly progressive or static; or autosomal recessive, more severe with onset in the first decade); multi-minicore disease (proximal muscle weakness, spinal rigidity, scoliosis, respiratory impairment, and external ophthalmoplegia); myotubular myopathies (type 1 fiber atrophy and central nuclei); X-linked myotubular myopathy (rapidly fatal in newborn boys, presenting with hypotonia and respiratory insufficiency, and arthrogryposis multiplex); centronuclear myopathy (autosomal dominant or recessive, or sporadic, neonatal and childhood forms, mildly progressive, central nuclei, type 1 predominance); nemaline myopathy (thread like rod inclusions on Gomori trichrome stains, 6 different forms, congenital to adult); actin aggregate myopathy (similar to nemaline myopathy, early onset, rapid course, rarely benign); desminopathy (slowly progressive, second to fourth decade distal weakness onset, cardiomyopathy, autosomal dominant or recessive); a-Bcrystallinopathy (similar to desminopathies, a myofibrillary myopathy); hyaline body myopathy (subsarcolemmal hyalinized bodies, rich in myofibrillary ATPase and myosin). Unstructured CM: congenital fiber type disproportion (non-progressive childhood CM with relatively good prognosis, type 1 fiber predominance).
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.
