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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1
Cincinnati Children's Hospital
Cincinnati, Ohio, United States, 45229