Clinical Trials Logo

Clinical Trial Summary

The investigators propose a preliminary study performing exome sequencing on samples from patients and their biologically related family members with tracheal and esophageal birth defects (TED). The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.


Clinical Trial Description

TEDs (tracheal esophageal birth defects) are a life threatening congenital disorder with multiple long term complications. Occurring in 1 in 2,500 to 4,500 live births, TEDs include tracheal malformations such as tracheomalacia, laryngotracheoesophageal clefts, tracheal agenesis, tracheal stenosis, tracheal bronchus, esophageal bronchus and esophageal malformations such as esophageal atresia (EA), tracheal esophageal fistula (TEF), and esophageal duplication. TEDs likely have a genetic basis, but in most cases the specific mutations are unknown. The most commonly diagnosed TED, requiring neonatal hospitalization, is EA/TEF. The familial recurrence rate of EA/TEF is 1% suggesting many result from de novo mutations and while environmental factors may have a minor influence, the mechanisms are unclear. The investigators hypothesize that patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. Currently the diagnosis is confirmed only with a plain chest x-ray showing a coiled feeding tube within the upper esophageal pouch. This approach does not determine the anatomic subtype of EA/TEF, the number or location of TEFs, the size of the gap between proximal and distal esophagus, or the presence of tracheomalacia. Many have evaluated preoperative laryngotracheo-bronchoscopy (LTB) and others have evaluated preoperative computerized tomography (CT) scanning to decrease the unknown factors associated with x-ray, but despite their potential benefits, they have great drawbacks. Therefore, there is a compelling need to develop noninvasive non ionizing imaging methods to evaluate TED infants. Magnetic Resonance Imaging (MRI) is an ideal candidate to fill this role in that it provides non-invasive high resolution anatomic and functional information. Here the investigators propose a preliminary study performing exome sequencing on samples from these patients and their biologically related family members. The investigators will also use advanced, non-invasive MR imaging techniques to assess TE, lung, and cardiac morphology and function in NICU patients. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT03455881
Study type Observational
Source Children's Hospital Medical Center, Cincinnati
Contact Paul Kingma, MD, PhD
Phone (513)636-2995
Email paul.kingma@cchmc.org
Status Recruiting
Phase
Start date March 28, 2018
Completion date January 2026

See also
  Status Clinical Trial Phase
Suspended NCT02949414 - A Study to Assess the Safety, Tolerability and Potential Efficacy of a Tracheal Replacement Consisting of a Tissue-engineered Tracheal Scaffold With Seeded Mesenchymal Cells Phase 1
Not yet recruiting NCT03411928 - Endotracheal Dilator to Improve Oxygenation N/A
Recruiting NCT05028023 - Tracheal Dilatation in Pediatric Patients With Acquired Tracheal Stenosis, and the Effects of Apneic Oxygenation N/A
Completed NCT02796326 - Modified Endotracheal Balloon Dilator to Improve Patient Oxygenation and Allow Ventilation During Airway Procedures N/A
Completed NCT06121024 - Long-term Outcomes of Post-intubation Tracheal Stenosis; 7-year Follow-up
Recruiting NCT02961387 - A Clinical Trial on Effectiveness and Safety of Hydrogen Generator to Treat Dyspnea for the Patients With Tracheal Stenosis: A Randomized, Double-blind and Single-center Clinical Study N/A
Completed NCT02855502 - Investigation of the Effect of Systemic Steroids on Treatment and Prevention of Recurrent Tracheal Stenosis in Postoperative Patients Phase 4
Completed NCT04674995 - Stent Versus Balloon Dilatation in Patients With Tracheal Benign Stenosis
Completed NCT01331863 - Airway and/or Pulmonary Vessels Transplantation Phase 1/Phase 2
Not yet recruiting NCT05835713 - Total Intravenous Anesthesia for Rigid Bronchoscopy Using Remimazolam N/A
Suspended NCT02620319 - Biodegradable Stents in the Management of Stenoses of the Large Airways N/A
Recruiting NCT04719845 - DilAtation Versus Endoscopic Laser Resection in Simple Benign trAcheal sTEnosis N/A
Completed NCT05317923 - Airway Management During Unusual Tracheal Stenosis N/A
Enrolling by invitation NCT05535803 - Treatment of Laryngotracheal Stenosis Using Mesenchymal Stem Cells Phase 2
Completed NCT00705848 - Matrix Biology of Tracheobronchomalacia and Tracheal Stenosis N/A
Completed NCT03130374 - Treatment of Laryngotracheal Stenosis Using Mesenchymal Stem Cells Phase 1/Phase 2
Completed NCT06061380 - Challenges and Management of Post-intubation Tracheal Stenosis
Not yet recruiting NCT04625400 - Role of Bronchoscopy in Assessment of Patients With Post-intubation Tracheal Stenosis N/A
Enrolling by invitation NCT04850742 - Feasibility of Tracheobronchial Reconstruction Using Bioengineered Aortic Matrices N/A
Completed NCT05682651 - Relationship Between Post-Intubation Tracheal Stenosis and Covid-19