DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 15 — 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 moduleCongenital myopathy 15 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 congenital myopathy 15 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 five abstracts provided are review articles and a small case series, not clinical trials. None of them test a drug or report treatment outcomes for congenital myopathy 15. The 2005 review on distal myopathies mentions that recent studies have identified the genes for Laing myopathy, tibial myopathy, and distal myopathy with rimmed vacuoles, and that these findings "hold promise for the eventual development of therapies." No therapy is described. The 2012 review on congenital myopathies states that classification is still based on morphological criteria and that phenotypical and genetic heterogeneity are common. The 2009 review lists subtypes of congenital myopathy — central core disease, multi-minicore disease, myotubular myopathies, nemaline myopathy, and others — but provides no treatment data. The 2006 study reports a series of 18 congenital myopathy cases from India, again without treatment information. The 2010 paper describes an autosomal dominant congenital myopathy with fibre type disproportion due to a mutation in the α slow-tropomyosin gene, but offers no therapeutic intervention.
No drug is mentioned in any of the five abstracts. There is no evidence of efficacy, no response rate, no survival data, and no sample size for any treatment. The abstracts are purely descriptive reviews of disease classification, genetics, and histopathology.
What is missing is any clinical trial testing a drug for congenital myopathy 15, any funding for such a trial, any patient stratification by genotype, and any outcome measure such as muscle strength or respiratory function. Without these, the abstracts provide no basis for drug repurposing.
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 · 2005 · 27 citations
Distal myopathies
AbstractPURPOSE OF REVIEW: The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients. RECENT FINDINGS: Publications over the past 5 years describe a number of new clinical phenotypes and genetic loci and further emphasize the overlap in clinical phenotype between a number of these disorders and between the distal and limb girdle myopathies and hereditary inclusion body myopathies. Recent studies have led to the identification of the genes and mutations responsible for early onset (Laing) myopathy and tibial (Udd) myopathy, and for distal myopathy with rimmed vacuoles (Nonaka), which has been shown to be allelic with quadriceps sparing hereditary inclusion body myopathy (IBM2), and have elucidated the underlying pathogenetic mechanisms in these conditions. New diagnostic approaches using magnetic resonance imaging, and a blood-based assay for dysferlin deficiency, have also been reported. SUMMARY: These findings have important implications for future genetic linkage and gene expression studies and for the diagnostic approach to patients with a distal myopathy phenotype. They also hold promise for the eventual development of therapies for this group of disorders.
Journal of the Siena Academy of Sciences · 2012 · 1 citations · open access
CONGENITAL MYOPATHIES
AbstractCongenital myopathies are a heterogeneous group of disorders characterized by muscle weakness and typical histopathological changes at muscle biopsy. In spite of recent advances on molecular genetics, their classification is still based on morphological criteria. Phenotypical and genetic heterogeneicity are common findings. The clinical symptoms usually appear in infancy, but adult-onset cases have been described. In this review, we focus on the current knowledges on congenital myopathies and we report our experience on adult-onset cases.
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).
CONGENITAL MYOPATHIES: A CLINICOPATHOLOGICAL STUDY OF 18 CASES
AbstractObjectives: Objectives: Congenital myopathies are a group of neuromuscular disorders, mostly of childhood onset, often of slow progression, but exceptionally having more rapid course. They show disease specific structural changes in the muscle which are detected by enzyme histochemistry, and electron microscopy but sometimes with immunohistochemistry. We report a series of 18 cases of congenital myopathy, which to the best of our knowledge is first largest series from India.
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.
