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

Launched by CHILDREN'S HOSPITAL MEDICAL CENTER, CINCINNATI · Mar 5, 2018

Keywords

ClinConnect Summary

This clinical trial is studying patients with congenital tracheal and esophageal birth defects, such as tracheoesophageal fistula and esophageal atresia. The goal is to find out if these patients have specific genetic changes that may make them more likely to have these conditions. Researchers will take DNA samples from patients and their family members, and they will also use advanced MRI scans to look at how the trachea, esophagus, lungs, and heart are developing and functioning in babies who are in the Neonatal Intensive Care Unit (NICU).

To be eligible for this study, patients must be diagnosed with one of the specific birth defects mentioned, or they must be family members of someone who has been diagnosed. Infants need to be between 24 and 42 weeks of age and must be stable enough to undergo an MRI if they are participating. Those who join the study will help researchers learn more about these conditions, which could lead to better understanding and treatment options for future patients. It's important to know that participation involves providing DNA samples and might include an MRI scan, but all procedures will be explained thoroughly to ensure everyone is comfortable and informed.

Gender

ALL

Eligibility criteria

• TED Genetic Cohort:
• Inclusion Criteria:
• • 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 Criteria:
• • 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.
• Exclusion Criteria:
• • Unable to determine or unavailable parent trio.
• • Unable to provide DNA sample.
• • Inability to provide consent.
• NICU TED MRI Cohort:
• Inclusion Criteria:
• • Infant born between 24 and 42 weeks PMA.
• • TED diagnosed by clinical team.
• • Inpatient in the CCHMC (Cincinnati Children's Hospital Medical Center) NICU.
• • Clinically stable and adequate temperature control to tolerate MRI as determined by the primary clinical team.
• • Infant and biological parents are participating in the NICU TED cohort.
• • Ability to consent/assent as appropriate.
• Exclusion Criteria:
• • Infant is on extracorporeal membrane oxygenation (ECMO).
• • Evidence of congenital diseases that may affect ability to tolerate MRI.
• • Standard MRI exclusion criteria as set forth by the CCHMC Department of Radiology. This includes any contraindications from tracheostomy tubes that are not MR compatible.
• • Inability to provide consent.
• NICU Control MRI Cohort:
• Inclusion Criteria:
• • Infant born between 24 and 42 weeks post menstrual age (PMA).
• • No tracheal or esophageal defects.
• • Inpatient in the CCHMC NICU.
• • Clinically stable and adequate temperature control to tolerate MRI as determined by the primary clinical team.
• Exclusion Criteria:
• • Infant is on ECMO.
• • Evidence of congenital diseases that may affect ability to tolerate MRI.
• • Standard MRI exclusion criteria as set forth by the CCHMC Department of Radiology. This includes any contraindications from tracheostomy tubes that are not MR compatible.
• • Inability to provide consent.