DeCure for Myopathy, proximal, and ophthalmoplegia
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for myopathy, proximal, and ophthalmoplegia — 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 moduleMyopathy, proximal, and ophthalmoplegia 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 myopathy, proximal, and ophthalmoplegia 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
A 2014 report describes a patient whose symptoms began at age 16 with prominent distal and proximal weakness, bulbar involvement, and ophthalmoplegia, initially classified as oculopharyngodistal myopathy. Genetic testing found a novel, de novo MYH2 mutation, c.5630T>C p.(Leu1877Pro). This expands the known phenotype of dominant MYH2 myopathies, which previously included a family with an MYH2 p.(Glu706Lys) mutation presenting with congenital contractures and ophthalmoplegia progressing to adult proximal myopathy, and another patient with a p.(Leu1870Pro) mutation presenting as congenital myopathy with ophthalmoplegia. The new case shows that dominant MYH2 myopathy can overlap clinically with the oculopharyngodistal myopathy spectrum.
A 2022 case report describes an 8-year-old male patient presenting with exhaustion, difficulty walking over 10–15 days, sudden pain in the popliteal region of one leg, and generalised muscle weakness. Genomic DNA testing found a heterozygous c.8518C>T variant in exon 54 of the RYR1 gene, leading to a diagnosis of minicore myopathy with external ophthalmoplegia. The report notes that external ophthalmoplegia is a myopathic sign of mitochondrial disease that can appear in various clinical presentations. The authors argue that early detection of external ophthalmoplegia by a physician can help diagnose multi-organ mitochondrial sequelae and reduce morbidity and mortality.
No treatment, survival, or response rate data are reported in either abstract. Both are single-patient reports, so no controlled comparisons or generalisable efficacy claims exist. What is missing is any systematic trial, any patient cohort large enough to stratify by mutation type or age of onset, and any funding for natural history studies or drug screening in these rare myopathies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Genetics · 2014 · 19 citations · open access
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel <i>de novo</i> p.(<scp>Leu1877Pro</scp>) mutation in <i><scp>MYH2</scp></i>
AbstractAn MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.
Zenodo (CERN European Organization for Nuclear Research) · 2022 · 0 citations · open access
A CASE REPORT MINICORE MYOPATHY IN ASSOCIATION WITH EXTERNAL OPHTHALMOPLEGIA
AbstractMinicore myopathy is a very rare inherited muscle condition that causes muscle weakness and atrophy. It gets its name from the tiny ‘core’ structures seen when looking at muscle cells under a microscope, as well as the word ‘myopathy,’ which means muscular ailment. The 8-year-old male patient was presented to the OPD with symptoms of exhaustion, trouble walking over the last 10-15 days, and a sudden start of discomfort in the contralateral lower limb in the popliteal region that became increasingly intense and intensified, as well as widespread muscular weakness. Specialized Diagnostic Tests was done for Genomic DNA testing from blood sample and report said that patient was likely to be affected with minicore myopathy with external ophthalmoplegia due to presence of heterozygous status for c.8518C > T in exone 54 of the RYR1 gene. Primary diagnosis was minicore myopathy with external opthalmoplegia. External ophthalmoplegia is a myopathic sign of mitochondrial disease that can appear in a range of clinical manifestations. However, one important take-away lesion from this report is that early detection of EO by a vigilant physician can help in the proper diagnosis of multi-organ mitochondrial sequelae, leading in lesser morbidity and mortality in these patients.
Zenodo (CERN European Organization for Nuclear Research) · 2022 · 0 citations · open access
A CASE REPORT MINICORE MYOPATHY IN ASSOCIATION WITH EXTERNAL OPHTHALMOPLEGIA
AbstractMinicore myopathy is a very rare inherited muscle condition that causes muscle weakness and atrophy. It gets its name from the tiny ‘core’ structures seen when looking at muscle cells under a microscope, as well as the word ‘myopathy,’ which means muscular ailment. The 8-year-old male patient was presented to the OPD with symptoms of exhaustion, trouble walking over the last 10-15 days, and a sudden start of discomfort in the contralateral lower limb in the popliteal region that became increasingly intense and intensified, as well as widespread muscular weakness. Specialized Diagnostic Tests was done for Genomic DNA testing from blood sample and report said that patient was likely to be affected with minicore myopathy with external ophthalmoplegia due to presence of heterozygous status for c.8518C > T in exone 54 of the RYR1 gene. Primary diagnosis was minicore myopathy with external opthalmoplegia. External ophthalmoplegia is a myopathic sign of mitochondrial disease that can appear in a range of clinical manifestations. However, one important take-away lesion from this report is that early detection of EO by a vigilant physician can help in the proper diagnosis of multi-organ mitochondrial sequelae, leading in lesser morbidity and mortality in these patients.
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.
