DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for X-linked myotubular myopathy — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleX-linked myotubular myopathy maps to a 2-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 x-linked myotubular 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.
What the evidence adds up to
X-linked myotubular myopathy is a congenital myopathy caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate phosphatase. The disease predominantly affects males, with a severe phenotype that often leads to early death or survival with severe handicaps. In one family described in 1975, the neonatal fatality rate was 100 percent, compared with 25 percent in an earlier reported family. The clinical picture includes decreased fetal movements, hydramnios (likely from insufficient swallowing in utero), and asphyxia at birth. In three autopsy cases from that family, many myotubes were found in muscle tissue.
Female carriers have been reported to manifest the disease, typically with a later onset of slowly progressive muscle weakness in childhood. However, a 2003 report describes a now 5-year-old girl with prenatal and neonatal onset of X-linked myotubular myopathy due to a 605delT mutation in the MTM1 gene. A 2023 study presents another female carrier with a pathogenic c.1261-10A>G variant in MTM1. In the 1975 family, five definite female carriers were identified by muscle biopsy, which revealed changes including myotubes in four of them, even though they were clinically healthy.
No drug treatment is mentioned in any of these abstracts. What is missing is any therapy that alters the course of the disease, as well as systematic data on how often female carriers develop symptoms severe enough to require intervention. No trial design, patient stratification strategy, or funding for a clinical study is described.
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 · 1975 · 90 citations
X‐linked myotubular myopathy with fatal neonatal asphyxia
AbstractA second family with X-linked myotubular myopathy is described. The clinical picture includes decreased fetal movements; hydramnios, in at least three cases, probably resulting from insufficient swallowing in utero; and asphyxia at birth. In three autopsy cases many myotubes were found in the muscle tissue. In five definite female carriers, muscle biopsy revealed changes, including myotubes in four. This family probably is not related to the eariler described family with X-linked myotubular myopathy, from which it differs in its 100 percent fatal outcome in the neonatal period, as compared with 25 percent in the eariler described family. A most important finding, in both families, is the possibility of recognizing clinically healthy female carriers by muscle biopsy.
X-linked myotubular myopathy in a female infant caused by a new <i>MTM1</i> gene mutation
AbstractX-linked myotubular myopathy usually affects male infants with a severe phenotype leading to early death or survival with severe handicaps. Female carriers have been reported manifesting in childhood with slowly progressive muscle weakness only. The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene.
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.
