Status:

RECRUITING

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

Lead Sponsor:

Children's Hospital Medical Center, Cincinnati

Collaborating Sponsors:

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

Columbia University

Conditions:

Tracheoesophageal Fistula

Esophageal Atresia

Eligibility:

All Genders

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 p...

Detailed 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 malformat...

Eligibility Criteria

Inclusion

  • TED Genetic Cohort:
  • 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

  • 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.

Key Trial Info

Start Date :

March 28 2018

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

January 1 2026

Estimated Enrollment :

360 Patients enrolled

Trial Details

Trial ID

NCT03455881

Start Date

March 28 2018

End Date

January 1 2026

Last Update

March 8 2023

Active Locations (1)

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Page 1 of 1 (1 locations)

1

Cincinnati Children's Hospital

Cincinnati, Ohio, United States, 45229

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