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Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients

NCT03455881 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 360

Last updated 2023-03-08

No results posted yet for this study

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
  • Esophageal Bronchus
  • Congenital High Airway Obstruction Syndrome

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • Columbia University

    collaborator OTHER

  • Children's Hospital Medical Center, Cincinnati

    lead OTHER

Principal Investigators

  • Paul Kingma, MD, PhD · Children's Hospital Medical Center, Cincinnati

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-03-28
Primary Completion
2025-01-31
Completion
2026-01-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03455881 on ClinicalTrials.gov