An observational study in Tracheoesophageal Fistula, Esophageal Atresia and Laryngeal Cleft, sponsored by Children's Hospital Medical Center, Cincinnati. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2023-03-08.
Sponsored by Children's Hospital Medical Center, Cincinnati · Observational
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.
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.
37 studies on the registry are indexed under Esophageal Atresia; 12 are open to participants now.
This study's planned enrollment of 360 is above the median of 50 across 19 observational studies indexed under Esophageal Atresia.
Browse Esophageal Atresia studies →Children's Hospital Medical Center, Cincinnati is the lead sponsor of 673 studies on the registry; 130 are open to participants now.
Of its 57 completed or terminated interventional studies of FDA-regulated products, 31 (54%) have results posted.
Counted across the registry records on this site, refreshed daily.
Approximately 100 NICU TED patient/parent trios for the NICU TED Genetic cohort.
Approximately 100 NICU TED patients for the NICU TED MRI cohort. These patients will also be in the NICU TED cohort.
Approximately 155 TED patient/parent trios from the Esophageal Center for the Esophageal Center Genetic cohort.
Approximately 5 NICU infants with normal tracheal and esophageal anatomy for the NICU Control MRI cohort.
TED Genetic Cohort:
Inclusion Criteria:
Exclusion Criteria:
NICU TED Genetic Cohort:
Inclusion Criteria:
Exclusion Criteria:
NICU TED MRI Cohort:
Inclusion Criteria:
Exclusion Criteria:
NICU Control MRI Cohort:
Inclusion Criteria:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
This study involves one inpatient biofluid collection encounter from the subject, one biofluid collection encounter from each biological parent, and an optional biofluid collection encounter from other biological family members.
This study involves up to three inpatient NICU MRI encounters. The first MRI may be done before surgical repair if the clinical team feels the infant is clinically stable. The second MRI may be completed post-surgical repair of TED. An additional 3rd MRI may be done prior to the time of discharge from the NICU. The pre repair, post-surgical, and pre discharge MRIs will provide valuable data for the understanding of tracheal esophageal malformation disorders and may provide clinical guidance for the participant's care.
This study involves one biofluid collection encounter from the subject, one biofluid collection encounter from each biological parent, and an optional biofluid collection encounter from other biological family members.
This study involves two inpatient NICU MRI encounters. The first MRI will occur within the first month of life, and the second MRI will occur prior to discharge.
Genomic Sequencing
Identify novel genes and mutations in patients with TEDs using trio genomic sequencing of TED patients and their parents.
Time frame: 1 day
Anatomic phenotypes using MRI
Investigate the esophageal, tracheal, mediastinal and pulmonary anatomy in patients with TEDs.
Time frame: 1 day
Change in the anatomic phenotype using MRI
Investigate the esophageal, tracheal, mediastinal and pulmonary anatomy in patients with TEDs before and after surgical repair.
Time frame: Change in MRI from pre-repair to discharge
Started Mar 2018 (actual). Primary completion is estimated for Jan 2025, 82 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Children's Hospital Medical Center, Cincinnati →