DeCure for Congenital fiber-type disproportion myopathy
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital fiber-type disproportion myopathy — screening already-approved drugs against its 11-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCongenital fiber-type disproportion myopathy maps to a 11-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 fiber-type disproportion 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
myosin heavy chain 7 (MYH7) — MYH7 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 9TPJ · 3.02 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
Congenital fibre-type disproportion is a rare congenital myopathy defined by a consistent histological finding: type 1 muscle fibres are smaller than type 2 fibres, with no other specific abnormalities on biopsy. A 1988 report of two siblings born to healthy non-consanguineous parents described a congenital progressive severe myopathy that met this strict histological diagnosis, and the authors proposed an autosomal recessive mode of inheritance, stating it was the first family reported with that pattern. The diagnostic status of the condition has remained controversial, as noted in a 2017 review.
Genetic understanding has advanced slowly. A 2007 review noted that selenoprotein N had been identified as a further gene associated with congenital fibre-type disproportion, adding to previously known genes. The same review stated that the increased understanding of genes and pathobiology should ultimately lead to effective treatments, but no specific treatment was described. The 2017 review similarly covered clinical features, pathology, genetic diagnosis, and treatment progress, but did not report any drug therapy or clinical trial.
No drug treatment for congenital fibre-type disproportion appears in any of these abstracts. No survival data, response rates, or sample sizes from treatment studies are given. The literature remains at the stage of gene discovery and diagnostic refinement. What is still missing is any funded clinical trial, any candidate drug tested in patients, and any stratification of the condition by specific genotype to enable targeted intervention.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
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.
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance
AbstractTwo siblings, born to healthy non-consanguineous parents, were found to be affected with congenital progressive severe myopathy. Muscle biopsy revealed fiber type disproportion with no other histological abnormalities, thus confirming the diagnosis of congenital fiber type disproportion and suggesting an autosomal recessive mode of inheritance. This, to our knowledge, is the first reported family in which a strict histological diagnosis of congenital fiber type disproportion has been made and an autosomal recessive mode of inheritance shown.
International journal of pediatrics · 2017 · 0 citations
Progress in the diagnosis and treatment of congenital fiber-type disproportion
AbstractCongenital fiber-type disproportion(CFTD) is a rare form of congenital myopathy, characterized by non-progressive generalized muscle weakness from early childhood.Diagnosis depends on crucial histological abnormality that type 1 muscle fibers are consistently smaller than type 2 fibers in the absence of other specific histological abnormalities.Whether CFTD should be regarded as a distinct diagnostic entity has always been a controversial issue.Many pathogenic genes have been identified in recent years.This article reviews clinical manifestation, pathology, genetic diagnosis and treatment progress of CFTD.
Key words:
Congenital fiber-type disproportion; Congenital myopathy; Genotype; Phenotype
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.
