DeCure for Congenital myopathy 21 with early respiratory failure
DeCure's autonomous Respiratory AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 21 with early respiratory failure — 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 moduleCongenital myopathy 21 with early respiratory failure 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 congenital myopathy 21 with early respiratory failure 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 two patients with connective tissue diseases who developed severe, histopathologically proven hydroxychloroquine myopathy. Both had ventilatory failure; one also had primary pulmonary disease from scleroderma, but the other had no pulmonary cause. Despite stopping hydroxychloroquine, the ventilatory failure and subsequent medical complications led to death in both patients. The authors state that hydroxychloroquine myopathy is usually mild to moderate and may be underrecognised, but these cases underscore its potential severity.
Nemaline myopathy, a congenital myopathy, can present with respiratory failure as the initial symptom in adults. A 2008 case report describes a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the first manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function improved substantially, and his respiratory function remained stable over four years of follow-up. A 1988 series of 13 nemaline myopathy patients confirms marked heterogeneity: most children had mild, slowly progressing proximal myopathy, but two infants who initially had moderate weakness later developed severe generalised weakness including respiratory muscles, leading to irreversible respiratory failure requiring continuous ventilatory support for 9 and 15 years respectively. Two brothers died in the neonatal period from respiratory failure, representing an X-linked variant.
A 2020 case report describes an 8-year-old boy with hypotonia and respiratory insufficiency that required tracheostomy and ventilator dependence. Muscle biopsy showed congenital fiber-type disproportion myopathy, and whole exome sequencing revealed a novel hemizygous missense variant in the FHL1 gene. The authors state this expands the genetic spectrum of FHL1-associated congenital myopathy with respiratory insufficiency. A 2021 case report describes a 30-year-old woman who developed refractory type II respiratory failure immediately after delivery. Electromyography and biopsy confirmed congenital fiber-type disproportion myopathy. She was treated with invasive then noninvasive ventilation and was weaned off the noninvasive ventilator on the seventh day postpartum. The authors recommend considering congenital myopathy as a differential diagnosis for type II respiratory failure of unclear cause.
What is missing is any prospective trial of a treatment for congenital myopathy 21 with early respiratory failure. The evidence consists entirely of case reports and small series, with no controlled data on any intervention. No drug has been tested in this specific genetic or clinical population. The natural history remains poorly defined, and no patient stratification by genotype or severity has been attempted in a systematic study. Funding for a natural history registry or a pilot trial of supportive care strategies is absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Muscle & Nerve · 2008 · 69 citations
Severe hydroxychloroquine myopathy
AbstractHydroxychloroquine causes a vacuolar myopathy that is usually of mild to moderate severity. The myopathy may be underrecognized, especially in patients who receive multiple other medications for complex illnesses. We report two patients with connective tissue diseases and unusually severe, histopathologically proven hydroxychloroquine myopathy. Both had ventilatory failure; one also had primary pulmonary disease associated with scleroderma, but the other lacked a pulmonary etiology. The ventilatory failure and subsequent medical complications led to death despite discontinuation of hydroxychloroquine, thereby underscoring the potential severity of hydroxychloroquine myopathy and the need for its early recognition.
Adult-Onset Nemaline Myopathy Presenting as Respiratory Failure
AbstractNemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory function remained stable. There are few reported cases of respiratory failure in patients with adult-onset nemaline myopathy, and the insidious onset in this case is even more unusual. This case highlights the varied presenting features of adult-onset nemaline myopathy and that noninvasive ventilation improves respiratory function.
AbstractThe marked heterogeneity of nemaline myopathy is again shown in the present series of 13 patients. Most children have a long-standing, mild, and slowly progressing proximal myopathy. Two brothers with extreme weakness died during the neonatal period of respiratory failure representing the X-linked variant. One adult with proximal weakness was also diagnosed as having nemaline myopathy. An unusual course was observed in 2 infants who initially had moderate weakness but subsequently developed severe generalized weakness including respiratory muscles. This led to irreversible respiratory failure requiring continuous ventilatory support for as long as 9 and 15 years, respectively. Although uncommon, the possibility of an imminent respiratory failure in initially weak infants should also be taken into account within the clinical spectrum of nemaline myopathy.
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 > 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.
World Journal of Clinical Cases · 2021 · 0 citations · open access
Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report
AbstractBACKGROUND: Congenital fiber-type disproportion (CFTD) is a form of congenital myopathy. CFTD is rare, especially when presenting in patients with critical illnesses. Here, we report a case of CFTD presenting with type II respiratory failure after delivery and provide a review of the literature on CFTD. CASE SUMMARY: A 30-year-old woman was admitted to the obstetrics department of our hospital with premature rupture of the fetal membrane and with 7 h of regular contractions. After delivery, the patient experienced a refractory type II respiratory failure. Physical examination along with diagnostic procedures such as electromyography and biopsy confirmed CFTD. Use of invasive ventilator followed by intermittent use of noninvasive ventilator attenuated her symptoms. The patient recovered after ventilator-assisted respiration and was weaned off the noninvasive ventilator on the seventh day postpartum. CONCLUSION: Congenital myopathy should be considered a differential diagnosis for type II respiratory failures that cannot be attributed to other diseases.
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.
