Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients (TED)
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|ClinicalTrials.gov Identifier: NCT03455881|
Recruitment Status : Recruiting
First Posted : March 7, 2018
Last Update Posted : March 21, 2019
|Condition or disease|
|Tracheoesophageal Fistula Esophageal Atresia Laryngeal Cleft Tracheal Stenosis Bronchial Stenosis Esophageal Bronchus Congenital High Airway Obstruction Syndrome|
|Study Type :||Observational|
|Estimated Enrollment :||260 participants|
|Official Title:||Comprehensive Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients|
|Actual Study Start Date :||March 28, 2018|
|Estimated Primary Completion Date :||January 2023|
|Estimated Study Completion Date :||January 2024|
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.
- Genomic Sequencing [ Time Frame: 1 day ]Identify novel genes and mutations in patients with TEDs using trio genomic sequencing of TED patients and their parents.
- Anatomic phenotypes using MRI [ Time Frame: 1 day ]Investigate the esophageal, tracheal, mediastinal and pulmonary anatomy in patients with TEDs.
- Change in the anatomic phenotype using MRI [ Time Frame: Change in MRI from pre-repair to discharge ]Investigate the esophageal, tracheal, mediastinal and pulmonary anatomy in patients with TEDs before and after surgical repair.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03455881
|Contact: Paul Kingma, MD, PhD||(513)firstname.lastname@example.org|
|United States, Ohio|
|Cincinnati Children's Hospital||Recruiting|
|Cincinnati, Ohio, United States, 45229|
|Contact: Paul Kingma, MD, PhD 513-636-2995 email@example.com|
|Principal Investigator: Paul Kingma, MD, PhD|
|Principal Investigator:||Paul Kingma, MD, PhD||Children's Hospital Medical Center, Cincinnati|