DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 20 — 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 20 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 20 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
No single drug has been tested in a clinical trial for congenital myopathy 20. The available literature consists entirely of reviews and consensus statements that summarise diagnostic criteria, genetic findings, and general care recommendations. A 2012 consensus statement from an international committee of 59 members across 10 disciplines produced guidelines for symptom assessment and therapeutic interventions in congenital myopathies, but it does not name any pharmacological treatment. A 2017 Danish cohort study prospectively assessed 107 patients aged 5 years or older with congenital myopathy, reporting that mutations and core histology were less common in that older cohort than in previous studies, but it did not test any drug.
Earlier reviews from 1994, 2007, and 2008 describe the widening genetic and pathological heterogeneity of congenital myopathies, noting that defects in the same gene can produce diverse phenotypes and that traditional classification is being challenged. The 2007 review mentions that increased understanding of genes and pathobiology "should ultimately lead to effective treatments," but no such treatment had been reported by the time of that publication. A 2009 review discusses the role of muscle biopsy in guiding genetic testing for genetically determined myopathies, again without reference to any drug therapy.
What is still missing is any clinical trial data for a drug in congenital myopathy 20 specifically. No funding for a drug trial is reported, no trial design has been published, and no patient stratification strategy for a pharmacological intervention has been proposed. The field remains at the stage of genetic diagnosis and supportive care guidelines.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Child Neurology · 2012 · 193 citations · open access
Consensus Statement on Standard of Care for Congenital Myopathies
AbstractRecent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
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.
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.
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 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.
Current Opinion in Neurology · 2009 · 12 citations
The role of muscle biopsy in the age of genetic testing
AbstractPURPOSE OF REVIEW: The purpose of this review is to discuss the role of muscle biopsy in the current age of genetic testing. RECENT FINDINGS: The diagnostic approach to patients with suspected genetically determined myopathies has been altered by recent advances in molecular diagnostic technologies and by the increased number of conditions for which the genetic alterations have been identified. Myopathological aspects can narrow down the differential diagnosis when the clinical phenotype is not informative enough and can help guide the molecular investigation. SUMMARY: Here, we review genetic and myopathological aspects of selected genetically determined myopathies.
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.
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