DeCure for Congenital myopathy 2b, severe infantile, autosomal recessive
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 2b, severe infantile, autosomal recessive — 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 2b, severe infantile, autosomal recessive 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 2b, severe infantile, autosomal recessive 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
actin alpha 1, skeletal muscle (ACTA1) — ACTA1 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 adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9DUV · 3.3 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
The 1994 review describes congenital myopathies as defined by clinical and morphological criteria, noting that molecular genetics might soon identify specific gene defects. The 2017 review states that congenital myopathies are a heterogeneous group of early-onset muscle disorders with weakness, distinct histopathologic features, and normal to slightly elevated creatine kinase. It reports that age at onset and clinical severity are variable, ranging from severely affected at birth to milder later-onset disease, and that cardiac involvement has been reported. The review classifies three main categories based on histopathology: nemaline myopathy, core myopathy, and centronuclear myopathy. It notes that inheritance may be dominant, recessive, or X-linked, and that greater than 25 unique genetic causes have been identified, including de novo dominant mutations. The 2010 review states that congenital myopathies are inherited disorders with onset in childhood, characterised by reduced muscle bulk, varying degrees of weakness, and usually slow progression, with most displaying a striking histomorphological abnormality that defines the condition.
No abstract provides data on survival, response rates, or sample sizes for any treatment in congenital myopathy 2b, severe infantile, autosomal recessive. No abstract mentions any drug, intervention, or clinical trial for this specific condition. The 1994 review mentions central core myopathy and centronuclear/myotubular myopathy as well-established conditions, but does not address the severe infantile autosomal recessive form. The 2017 review notes that congenital myopathies are generally considered nonprogressive, but this does not apply uniformly to severe infantile forms.
What is still missing is any clinical trial data, any drug tested in this specific subtype, any patient stratification by genetic mutation, and any funding directed at treatment development for congenital myopathy 2b. The abstracts provide only general classification and genetic heterogeneity, not evidence of efficacy for any compound.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Muscle & Nerve · 1994 · 52 citations
Congenital myopathies
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.
Neurology Genetics · 2017 · 1 citations · open access
Establishing prevalence in rare neuromuscular diseases
AbstractCongenital myopathies (CMs) are a heterogeneous group of early-onset muscle disorders with weakness, distinct histopathologic features, and normal to slightly elevated creatine kinase (CK).1 The age at onset and clinical severity can be variable, ranging from severely affected at birth to a milder later-onset disease.2 Cardiac involvement has been reported.3,4 CMs are generally considered nonprogressive disorders. Three main categories are recognized within the classical CMs based on their typical histopathology: nemaline myopathy (NM), core myopathy, and centronuclear myopathy (CNM). Inheritance in CMs may be dominant, recessive, or X-linked. Greater than 25 unique genetic causes of CM have been identified and different types of mutations within the same gene (e.g., deletions, duplications, missense, nonsense, splice-site, and frameshift mutations) have been identified, as well as de novo dominant mutations.5
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 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.
