Recruiting

Observational Study

Sponsor:

Children's Hospital Medical Center, Cincinnati

Code:

NCT03455881

Conditions

Tracheoesophageal Fistula

Esophageal Atresia

Laryngeal Cleft

Tracheal Stenosis

Bronchial Stenosis

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Tracheoesophageal Fistula

Esophageal Atresia

Laryngeal Cleft

Tracheal Stenosis

Bronchial Stenosis

Study ID

NCT03455881

Start date

Mar 28, 2018

Status verified date

Mar, 2023

Completion date

Jan, 2026

Anticipated

Primary completion date

Jan, 2025

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

TED Genetic Cohort:

Inclusion Criteria:

  • Patient that has been diagnosed by clinical team with a congenital TED OR family member to the TED diagnosed patient.
  • Willingness to donate biological specimens.
  • Ability to consent/assent as appropriate.

Exclusion Criteria:

  • Unable to determine or unavailable parent trio.
  • Unable to provide DNA sample.
  • Inability to provide consent.

NICU TED Genetic Cohort:

Inclusion Criteria:

  • Infant born between 24 and 42 weeks PMA.
  • TED diagnosed by clinical team.
  • Inpatient in the Neonatal Intensive Care Unit (NICU) OR family member to the inpatient in the NICU.
  • Willingness to donate biological specimens.
  • Ability to consent/assent as appropriate.

Exclusion Criteria:

  • Unable to determine or unavailable parent trio.
  • Unable to provide DNA sample.
  • Inability to provide consent.

NICU TED MRI Cohort:

Inclusion Criteria:

  • Infant born between 24 and 42 weeks PMA.
  • TED diagnosed by clinical team.
  • Inpatient in the CCHMC (Cincinnati Children's Hospital Medical Center) NICU.
  • Clinically stable and adequate temperature control to tolerate MRI as determined by the primary clinical team.
  • Infant and biological parents are participating in the NICU TED cohort.
  • Ability to consent/assent as appropriate.

Exclusion Criteria:

  • Infant is on extracorporeal membrane oxygenation (ECMO).
  • Evidence of congenital diseases that may affect ability to tolerate MRI.
  • Standard MRI exclusion criteria as set forth by the CCHMC Department of Radiology. This includes any contraindications from tracheostomy tubes that are not MR compatible.
  • Inability to provide consent.

NICU Control MRI Cohort:

Inclusion Criteria:

  • Infant born between 24 and 42 weeks post menstrual age (PMA).
  • No tracheal or esophageal defects.
  • Inpatient in the CCHMC NICU.
  • Clinically stable and adequate temperature control to tolerate MRI as determined by the primary clinical team.

Exclusion Criteria:

  • Infant is on ECMO.
  • Evidence of congenital diseases that may affect ability to tolerate MRI.
  • Standard MRI exclusion criteria as set forth by the CCHMC Department of Radiology. This includes any contraindications from tracheostomy tubes that are not MR compatible.
  • Inability to provide consent.

Study Design

Enrollment

360 participants

Anticipated

Interventions and Outcome Measures

Arms

NICU TED Genetic Cohort

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.

NICU TED MRI Cohort

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.

TED Genetic Cohort

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.

NICU Control MRI Cohort

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.

Primary outcome measure

  • Genomic Sequencing [ Time Frame: 1 day ]
  • Anatomic phenotypes using MRI [ Time Frame: 1 day ]

Central Contacts and Locations

Central contacts

Paul Kingma, MD, PhD

(513)636-2995paul.kingma@cchmc.org

Locations

Cincinnati Children's Hospital

Recruiting

Cincinnati, Ohio, United States, 45229

Contacts

Paul Kingma, MD, PhD

513-636-2995paul.kingma@cchmc.org

Principal Investigator:

Paul Kingma, MD, PhD

More Information

Sponsor

Children's Hospital Medical Center, Cincinnati

Last update posted

Mar 8, 2023

Last verified

Mar, 2023

Keywords

  • TEF
  • EA
  • Tracheal Esophageal birth Defect (TED)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Children's Hospital Medical Center, Cincinnati on 2023-03-08.