DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 18 — 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 18 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 18 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 2017 Danish study identified 107 patients aged five years or older with congenital myopathy, but the abstract provides no prevalence figures, no specific mutation data, and no survival or response numbers. The 2009 review lists multiple congenital myopathy subtypes — central core disease, multi-minicore disease, myotubular myopathies, nemaline myopathy, actin aggregate myopathy, desminopathy, and others — but offers no treatment outcomes. The 2016 review states that management remains limited to alleviating complications from muscle weakness. No abstract reports a drug trial, a response rate, or a survival benefit for any congenital myopathy.
The 2006 paper on magnesium sulfate for torsades de pointes in children with long QT syndrome is not about congenital myopathy. It reports that six of seven children with long QT syndrome (five congenital, two acquired) responded completely to an initial intravenous bolus of magnesium sulfate at 5.9 ± 3.8 mg/kg; one neonate required 30 mg/kg. Continuous infusion at 0.3–1.0 mg/kg per hour prevented recurrence. The corrected QT interval did not shorten after treatment. This abstract does not address muscle weakness, respiratory function, or any myopathy outcome.
The 2007 and 2021 abstracts describe genetic discoveries — TPM3 mutation in nemaline myopathy, beta-tropomyosin in cap disease, cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion — but no therapeutic intervention is tested. The 2009 review notes that congenital myopathies are considered non-progressive or slowly progressive, yet no abstract provides longitudinal data on disease course or treatment effect.
What is still missing: any clinical trial testing a drug for congenital myopathy 18 specifically; funding for such trials; validated outcome measures for this rare population; and patient stratification by genotype, since the abstracts show genetic heterogeneity even within named subtypes.
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.
Successful uses of magnesium sulfate for torsades de pointes in children with long QT syndrome
AbstractBACKGROUND: Administration of magnesium sulfate (MgSO4) is an effective and safe treatment for torsades de pointes (TdP) associated with acquired long QT syndrome (LQTS) in adults. As for children, there are few reports focusing on it. The authors discuss the efficacy of MgSO4 for TdP in children with congenital and acquired LQTS. The authors also discuss the optimal administration dosage and serum magnesium (SMg) concentration during MgSO4 therapy. METHODS: The authors studied seven consecutive LQTS children undergoing MgSO4 therapy for TdP. Of the seven children, five were congenital LQTS and two were acquired LQTS. A bolus injection of MgSO4 was given intravenously over 1-2 min followed by continuous infusion for the next 2-7 days. RESULTS: Of the seven patients, six responded completely to the initial bolus. The bolus dosage was 5.9 +/- 3.8 mg/kg (range, 2.3-12 mg/kg) in these six, and the other remaining one (neonate with congenital LQTS) required a total of 30 mg/kg until complete abolishment. The continuous infusion was given at rates of 0.3-1.0 mg/kg per h and patients did not show recurrence of TdP. The SMg concentration was 3.9 +/- 1.0 mg/dL (2.9-5.4 mg/dL) immediately after bolus injection. The mean corrected QT (QTc) interval before and after bolus injection did not show significant difference. CONCLUSION: Intravenous infusion of MgSO4 was effective for TdP in children with LQTS, and MgSO4 abolished TdP without shortening the QTc interval. The optimal bolus dosage, infusion rates and SMg concentration were 3-12 mg/kg, 0.5-1.0 mg/kg per h and 3-5 mg/dL, respectively.
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.
Clinical Case Reports · 2021 · 6 citations · open access
α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
AbstractAbstract We report a case of neonatal nemaline myopathy with a de novo TPM3 mutation, which has been classified as a likely pathogenic mutation. With the expanding use of genetic testing in congenital myopathies, genotype‐phenotype descriptions of novel variants are important to inform clinical care, diagnosis, genetic counseling, and management of disease.
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).
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
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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