DeCure for Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
DeCure's autonomous Respiratory AI scientist is researching a drug-repurposing hypothesis for myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies — 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 moduleMyopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 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 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 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 2008 case report describes an infant with initial respiratory distress from bilateral diaphragmatic weakness. Biopsy and necropsy showed a progressive congenital myopathy with type I muscle fibre atrophy and predominant respiratory muscle involvement; central nervous system lesions were attributed to severe hypoxia. No drug or treatment was tested.
A 2020 case report of an 8-year-old boy with hypotonia and respiratory insufficiency requiring tracheostomy and ventilator dependence identified a novel hemizygous missense variant (c.530A>C p.Gln177Pro) in the FHL1 gene. Muscle biopsy showed congenital fibre-type disproportion myopathy. The report expands the genetic spectrum of FHL1-associated congenital myopathy but does not test any drug.
A 2013 pilot study of seven patients with genetically confirmed collagen VI myopathy (two mild, two moderate progressive, three early severe; mean age 12.0±7.7 years) measured lung function, blood gases, muscle strength, and respiratory mechanics. Forced vital capacity distinguished the mild group (>60% predicted) from the other two groups (<50% predicted). All patients showed diaphragmatic dysfunction during a voluntary maximal sniff maneuver, measured by negative gastric pressure. Diaphragmatic dysfunction at rest was present only in the early severe and moderate progressive groups. All patients had diaphragmatic fatigue, defined by a diaphragmatic tension-time index above 0.15. No drug was tested.
No drug repurposing evidence exists for this disease. What is missing is any clinical trial, any drug intervention, any patient stratification beyond genetic diagnosis, and any funding for treatment research.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
European Neurology · 2008 · 10 citations
A Progressive Congenital Myopathy
AbstractAn uncommon case of initial respiratory distress during the first months of life as the result of bilateral diaphragmatic weakness is presented. The biopsy and necropsy findings show a progressive congenital myopathy with type I muscle fiber atrophy and predominant involvement of the respiratory muscles. The lesions, observed in the central nervous system are due to the severe hypoxia. The morphological findings are discussed in relation to the etiology and the clinical picture of the disease.
Journal of Biochemical and Clinical Genetics · 2020 · 1 citations · open access
Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
AbstractBackground: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory insufficiency and feeding difficulties. Case presentation: Here, we report an 8-year-old boy having hypotonia and signs of respiratory insufficiency that ended with tracheostomy and ventilator-dependent status. Muscle biopsy showed histological findings of congenital fiber-type disproportion myopathy. The whole exome sequencing revealed a novel hemizygous missense variant (c.530A &gt; C p.Gln177Pro) that confirms the diagnosis of FHL1-associated congenital myopathy. Conclusion: The findings in this study help to expand the genetic and mutational spectrum of the FHL1 gene associated with respiratory insufficiency and help in formulating a precise strategy for prognosis and future management of patients.
Diaphragmatic dysfunction in collagen VI myopathies
AbstractIntroduction Collagen VI (COLVI)-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. Objectives This pilot study aimed at characterizing the clinical respiratory muscle phenotype in patients with COL6A1-3 genes mutations. Methods Lung function, blood gases, muscle strength and respiratory mechanics were measured in patients with genetically confirmed COLVI myopathy between 2002 and 2012. Patients were classified as Early Severe , Moderate Progressive and Mild according to clinical disease presentation. Results Seven patients with mutations in the COL6A genes of variable severity (2 Mild , 2 Moderate Progressive and 3 Early Severe ) were evaluated at a mean age of 12.0±7.7 years. Forced vital capacity distinguished the Mild group (>60% predicted) from the 2 other groups (<50% predicted). This distinction of severity was also possible using the motor function measure scale. The most striking observation was a diaphragmatic dysfunction in all patients during a voluntary maneuver, as assessed by a negative gastric pressure (Pgas) during a maximal sniff maneuver. Diaphragmatic dysfunction at rest was observed only in the Early Severe and Moderate Progressive patients with a negative Pgas during inspiration. All patients had diaphragmatic fatigue assessed by a diaphragmatic tension-time index over the threshold of 0.15. Conclusion Diaphragmatic dysfunction during maximal voluntary maneuver and diaphragmatic fatigue are constant features in COLVI myopathies. These observations can assist the diagnosis and should be taken in account for the clinical management, with the early detection of sleep-disordered breathing.
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.
