DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 23 — 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 23 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 23 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
Congenital myopathy 23 is not mentioned in any of the provided abstracts. The abstracts discuss congenital myopathies broadly, noting that the term was introduced with the discovery of central core disease in 1956. They describe dozens of congenital myopathies defined by clinical and morphological criteria, and state that defects in the same gene can result in diverse phenotypes, including adult-onset disorders and distal arthrogryposis. The abstracts report that the spectrum of pathological changes associated with known gene defects has widened, and new genes responsible for rare structural defects have been identified.
The 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. It also lists unstructured congenital myopathy as congenital fiber type disproportion. The 1994 abstract states that several dozen congenital myopathies are defined by clinical and morphological criteria, and that molecular genetics may allow identification of specific gene defects in many of these diseases in the near future. The 2019 abstract notes that ptosis and/or ophthalmoplegia is present in over half of patients with mitochondrial disease, but does not give numbers for congenital myopathies.
No specific drug, treatment, survival rate, response rate, or sample size for any congenital myopathy is reported in any of these abstracts. The 2008 abstract mentions that new animal models highlight therapeutic possibilities, and the 2019 abstract states that improved understanding of molecular mechanisms is enabling development of experimental molecular therapies with clinical potential, but no concrete results are given. What is still missing for congenital myopathy 23 specifically is any identification of its causative gene, any animal model, any clinical trial, any patient stratification, and any funding directed at it.
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 · 2008 · 72 citations
Congenital myopathies
AbstractPURPOSE OF REVIEW: The present review aims to discuss the pathological and clinical heterogeneity of congenital myopathies, and the overlap between the different variants highlighted by recent studies. RECENT FINDINGS: The spectrum of pathological changes associated with known gene defects has widened, and new genes responsible for rare structural defects have been identified. The complexity of the classification of these conditions is highlighted by the realization that defects in the same gene can result in diverse phenotypes, including disorders traditionally classified as congenital myopathies with structural abnormalities, adult-onset disorders, conditions characterized by distal weakness and wasting, or distal arthrogryposis. There is a wider appreciation of the complexities of inheritance and of the value of noninvasive assessment, such as muscle MRI. New animal models provide a better understanding of pathogenesis and are highlighting therapeutic possibilities. SUMMARY: The overlap of clinical and pathological features in the congenital myopathies has led to the recognition that diverse disorders are often associated with the same causative gene, and is challenging traditional classifications. Identification of further causative genes and development of new models will further the understanding of pathogenesis and development of therapies.
AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well-established conditions including central core myopathy and centronuclear/myotubular myopathy and allowed greater understanding of the interrelationships of some of the less common or less well-established conditions. In the near future molecular genetics may allow the identification of the specific gene defect in many of these diseases. This article reviews the major congenital myopathies and presents some of the information gained by application of new technology to these conditions.
Current Opinion in Ophthalmology · 2019 · 6 citations
The neuro-ophthalmology of inherited myopathies
AbstractPURPOSE OF REVIEW: Inherited myopathies, and in particular mitochondrial myopathies, are heterogeneous disorders, and ocular manifestations may be the presenting feature or offer important diagnostic clues. The ophthalmologist may be key to diagnosis, facilitating recognition of associated potentially life-threatening organ manifestations and an integral part of multidisciplinary care. This review, focusing especially on mitochondrial myopathies, provides updates on clinical features, diagnosis and recent therapeutic developments. RECENT FINDINGS: Ptosis and/or ophthalmoplegia is present in over half of patients with mitochondrial disease, and associated clinical features imply specific genetic associations. Advances in next-generation sequencing have led to rapid evolution in the field, improving diagnosis rates, facilitating identification of novel genes, mutations and phenotypes, and providing important insights into disease mechanisms and therapeutic possibilities. Improved understanding of molecular mechanisms in inherited myopathies is enabling the development of experimental molecular therapies with clinical potential. SUMMARY: Genetic advances are driving progress in the field of inherited myopathies, influencing diagnosis, understanding of disease and development of therapies. Recognition of key features can impact diagnosis and management of these important conditions.
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).
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.
AbstractMyotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory failure, peripheral tetraparesis, bulbar disorders, the need for artificial lung ventilation and probe nutrition.
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.
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