RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2018-03-28
Study Completion:2026-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03455881

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Patient that has been diagnosed by clinical team with a congenital TED OR family member to the TED diagnosed patient.
  2. * Willingness to donate biological specimens.
  3. * Ability to consent/assent as appropriate.
  1. * Unable to determine or unavailable parent trio.
  2. * Unable to provide DNA sample.
  3. * Inability to provide consent.

Contacts and Locations

Study Contact

Paul Kingma, MD, PhD
CONTACT
(513)636-2995
paul.kingma@cchmc.org

Principal Investigator

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

Study Locations (Sites)

Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
United States

Collaborators and Investigators

Sponsor: Children's Hospital Medical Center, Cincinnati

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2018-03-28
Study Completion Date2026-01

Study Record Updates

Study Start Date2018-03-28
Study Completion Date2026-01

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

  • Tracheoesophageal Fistula
  • Esophageal Atresia
  • Laryngeal Cleft
  • Tracheal Stenosis
  • Bronchial Stenosis
  • Esophageal Bronchus
  • Congenital High Airway Obstruction Syndrome