DeCure for Autosomal recessive centronuclear myopathy
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive centronuclear myopathy — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal recessive centronuclear myopathy maps to a 4-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 autosomal recessive centronuclear myopathy 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
striated muscle enriched protein kinase (SPEG) — SPEG 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1U2H · 0.96 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Autosomal recessive centronuclear myopathy is not directly addressed by any of the provided abstracts. The 2004 case report describes a female patient with adult-onset centronuclear myopathy manifesting in the fifth decade with no family history, but does not specify the inheritance pattern as autosomal recessive. The 2023 study reports an X-linked form in a female carrier of a pathogenic MTM1 gene variant (c.1261-10A>G), which predominantly affects males. The 1997 paper describes an autosomal dominant family with centronuclear myopathy whose clinical features simulated facioscapulohumeral syndrome, noting that autosomal forms usually have later onset and milder course than X-linked forms. The 2006 study concerns dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene, not centronuclear myopathy, and reports genetic heterogeneity with unidentified additional genes.
No clinical trial data, survival figures, response rates, or sample sizes for any treatment in autosomal recessive centronuclear myopathy appear in these abstracts. The 1997 paper states that 13 families with autosomal dominant centronuclear myopathy had been previously described, and adds one new family. The 2004 paper describes a single case of late adult-onset CNM. The 2023 paper presents one female patient with X-linked myotubular myopathy. No drug, therapy, or intervention is mentioned in any abstract.
What is missing for autosomal recessive centronuclear myopathy specifically: any clinical trials, any tested treatments, any systematic natural history data, any patient stratification by genetic subtype, and any dedicated funding for drug repurposing studies in this form of the disease.
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 · 2006 · 32 citations
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene
AbstractOBJECTIVE: To characterize the muscle involvement of patients with central core disease (CCD) caused by mutations in the ryanodine receptor 1 gene (RYR1) and to compare these findings with those from patients with core myopathies unlinked to the RYR1 gene. METHODS: We performed a systematic muscular imaging assessment in 11 patients with an RYR1 gene mutation and compared these findings with those of 5 patients from two unrelated families with autosomal dominant core myopathies not linked to RYR1, ACTA1, or MYH7 gene loci. RESULTS: All patients with RYR1 CCD had a characteristic pattern with predominant involvement of the gluteus maximus, adductor magnus, sartorius, vastus intermediolateralis, soleus, and lateral gastrocnemius muscles. In contrast, muscle CT in the first family not linked to RYR1 showed predominant affection of the gluteus minimus and hamstring muscles, whereas the second family presented with predominant involvement of the gluteus minimus, vastus intermediolateralis, tibialis anterior, and medial gastrocnemius muscles. In addition to muscle imaging data, we present detailed information on the clinical and pathologic findings of these novel phenotypes of core myopathies not linked to RYR1. CONCLUSIONS: Our data suggest genetic heterogeneity in autosomal dominant core myopathies and the existence of additional unidentified genes.
Yonsei Medical Journal · 2004 · 2 citations · open access
A Case of Adult-Onset Centronuclear Myopathy
AbstractCentronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal form, the childhood onset form, and the adult onset form. This paper describes the case of a female patient with CNM, in whom the disease manifested itself in the fifth decade of life, without any prior family history of such disorders. To the best of our knowledge, this is a rare case of late adult-onset CNM.
International Journal of Molecular Sciences · 2023 · 2 citations · open access
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
AbstractX-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case of X-linked myotubular myopathy in a female carrier of a pathogenic c.1261-10A>G variant in the MTM1 gene.
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.
