Rare & Orphan Lab · DeCure for X

DeCure for Diaphragmatic eventration

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for diaphragmatic eventration — 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 module1 genesLead labRare & Orphan
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Rare & OrphanDOID:10480$DeCureRare

The disease map

Disease moduleDiaphragmatic eventration 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 diaphragmatic eventration 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

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)PIK3CA 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 2sdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 4JPS · 2.2 Å · ligand (2S)-N~1~-{4-methyl-5-[2-(1,1,1-trifluoro-2-methylpropan-2-yl)pyridin-4-yl]-1,3-thiazol-2-yl}pyrrolidine-1,2-dicarboxamide (1LT). Experimental structure, not a prediction.

What the evidence adds up to

Twelve infants and children with symptomatic diaphragmatic eventration (nine congenital, three acquired) underwent open transthoracic plication with polypropylene U-stitches and Teflon pledgets between 2005 and 2012. Preoperative symptoms included respiratory distress (91.7%), wheezing (75%), cough (66.7%), and recurrent pneumonia (50%); 41.7% required mechanical ventilation. After surgery, symptoms resolved immediately in 83.3% of patients but persisted in 16.7% at one year. Mean hospital stay was 6.3 days, mean follow-up 24.3 months, and all patients survived two years with no recurrence. A separate 2011 report described a thoracoscopic technique using an intestinal clamp and a feeding tube as a knot pusher in four children, achieving satisfactory results without hypercapnia.

Diaphragmatic eventration is rare, with an estimated incidence below 0.05%, and is often found incidentally. A 2025 case report noted that symptomatic patients may very rarely present with recurrent syncope. A 1973 review distinguished congenital eventration, where the diaphragm lacks muscle and is only a membrane, from acquired forms caused by phrenic nerve damage from birth injury, trauma, or iatrogenic injury during thoracotomy. A 2018 case report described an adult with congenital eventration undergoing laparoscopic cholecystectomy, noting that increased intra-abdominal pressure could risk spontaneous diaphragmatic rupture or respiratory failure, and that careful anaesthesia planning is needed.

A 2012 case report described prenatal sonographic detection of right congenital diaphragmatic eventration associated with non-immune hydrops fetalis, emphasising that distinguishing eventration from congenital diaphragmatic hernia is critical because postnatal management and prognosis differ.

No controlled trials compare plication to non-surgical management. The evidence consists entirely of small case series and single reports, with no data on long-term pulmonary function, quality of life, or outcomes in asymptomatic adults. Patient stratification by age, aetiology, or severity is absent, and no funding for prospective studies is apparent.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

The Korean Journal of Thoracic and Cardiovascular Surgery · 2015 · 6 citations · open access

Open Transthoracic Plication of the Diaphragm for Unilateral Diaphragmatic Eventration in Infants and Children

AbstractBACKGROUND: To evaluate our experience of early surgical plication for diaphragmatic eventration (DE) in infancy and childhood. METHODS: This study evaluated infants and children with symptomatic DE who underwent plication through an open transthoracic approach in our childhood development department between January 2005 and December 2012. Surgical plication was performed in several rows using polypropylene U-stitches with Teflon pledgets. RESULTS: The study included 12 infants and children (7 boys and 5 girls) with symptomatic DE (9 congenital and 3 acquired). Reported symptoms included respiratory distress (91.7%), wheezing (75%), cough (66.7%), and recurrent pneumonia (50%). Preoperative mechanical ventilatory support was required in 41.7% of the patients. The mean length of hospital stay was 6.3±2.5 days. The mean follow-up period was 24.3±14.5 months. Preoperative symptoms were immediately relieved after surgery in 83.3% of patients and persisted in 16.7% of patients one year after surgery. All patients survived to the end of the two-year follow-up and none had recurrence of DE. CONCLUSION: Early diagnosis and surgical plication of the diaphragm for symptomatic congenital or acquired diaphragmatic eventration offers a good clinical outcome with no recurrence.

https://doi.org/10.5090/kjtcs.2015.48.5.307
Journal of obstetrics and gynaecology research · 2012 · 4 citations

Prenatal diagnosis of right diaphragmatic eventration associated with fetal hydrops

AbstractCongenital diaphragmatic eventration (CDE) is a rare diaphragmatic abnormality. Clinical manifestations of CDE may mimic congenital diaphragmatic hernia. Prenatal differential diagnosis of eventration is critical because postnatal managing and prognosis of these conditions vary significantly. Sonographic features of CDE involve presence of abdominal organs in the thorax, shift of cardiac axis and mediastinum. Non-immune hydrops fetalis (NIHF) has been previously reported to be associated with intrathoracic masses as well as CDE. In this report, we present a case of congenital right diaphragmatic eventration associated with NIHF.

https://doi.org/10.1111/j.1447-0756.2011.01831.x
Journal of Indian Association of Pediatric Surgeons · 2011 · 4 citations · open access

A helping clamp for thoracoscopic plication of eventration of the diaphragm

AbstractBACKGROUND AND AIM: It is difficult to suture an extremely thin and billowed up congenital eventration of the diaphragm thoracoscopically, without insufflation. MATERIALS AND METHODS: The authors describe their technique using an intestinal clamp to control the redundant tissue and a feeding tube as a flexible knot pusher, to perform the thoracoscopic plication without risking hypercapnia. RESULTS: A satisfactory result was obtained in all the four children. CONCLUSION: This is a useful adjunctive for thoracoscopic plication of diaphragmatic eventration.

https://doi.org/10.4103/0971-9261.83486
Clinical Case Reports · 2025 · 0 citations · open access

Severe Diaphragmatic Eventration Presenting With Recurrent Syncope: A Rare Case Report

AbstractDiaphragmatic eventration is a rare condition with an estimated incidence of less than 0.05% and is often discovered incidentally. Very rarely, symptomatic patients may present with syncope. Meticulous clinical assessment and appropriate imaging studies are crucial for unraveling the diagnosis.

https://doi.org/10.1002/ccr3.71473
Paediatrica Indonesiana · 1973 · 0 citations · open access

Eventratio diaphragmatica

AbstractA diaphragmatic eventration is a displacement of abdominal structures into the thoracic cavity, due to weakness and balooning of the diaphragm (Nelson, 1969). In several aspects it has similarities with a diaphragmatic hernia, i.e. the space occupying effects to the lungs, and the sequences of it. An eventration can be divided in 2 groups, the congenital eventration, where the diaphragm is devoid of mucles and only a membrane is separating the abdominal from the pleural cavity; and the acquired one where the phrenic nerve is damaged, usually due to birth injury; but it can also be caused by any other trauma (Bernado et aI., 1961; Bisono et aI., 1970) such as surgical procedures at the time of thoracotomy, the so called iatrogenic eventration (Jewett et aI., 1964).

https://doi.org/10.14238/pi13.1.1973.35-42
Current Medicine Research and Practice · 2018 · 0 citations

Eventration of diaphragm in a patient for laparoscopic cholecystectomy: A case report

AbstractDiaphragmatic eventration is an abnormal elevation of the dome of diaphragm in which the whole or part of the diaphragm muscle is replaced by fibroelastic tissue. Congenital diaphragmatic eventration presenting in adults is uncommon and usually requires no treatment. However, these patients may need incidental elective or emergency surgery and any event that leads to an increase in intra-abdominal pressure may predispose them to the risk of spontaneous diaphragmatic rupture and respiratory failure. A well planned advanced anaesthesia technique will not only avoid complications but also decreases hospital stay and cost.

https://doi.org/10.1016/j.cmrp.2018.08.002

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.