Assessing genetic and phenotypic factors in tracheal and esophageal birth defects

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

This study is trying to find out if certain genes are linked to tracheal and esophageal birth defects in babies by looking at their DNA and using special imaging techniques.

Quick facts

• Study type: Observational
• Enrollment: 360 (estimated)
• Sex: All
• Sponsor: Children's Hospital Medical Center, Cincinnati (Academic / other)
• Locations: 1 site (Cincinnati, Ohio)
• Trial ID: NCT03455881 on ClinicalTrials.gov

What this trial studies

This observational study aims to perform exome sequencing on patients and their biologically related family members diagnosed with tracheal and esophageal birth defects (TED). The researchers will utilize advanced MRI techniques to evaluate the morphology and function of the trachea, esophagus, lungs, and heart in neonatal patients. The goal is to identify distinct genetic mutations that may predispose individuals to these congenital disorders, which occur in approximately 1 in 2,500 to 4,500 live births. By understanding the genetic basis of TED, the study seeks to improve diagnostic and treatment approaches for affected infants.

Who should consider this trial

Good fit: Ideal candidates include infants diagnosed with tracheal and esophageal birth defects and their family members willing to participate.

Not a fit: Patients who are unable to provide DNA samples or consent may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better understanding and management of tracheal and esophageal birth defects, potentially improving outcomes for affected infants.

How similar studies have performed: While the genetic basis of TED is not fully understood, similar studies have shown promise in identifying genetic mutations associated with congenital disorders.

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.

Where this trial is running

Cincinnati, Ohio

• Cincinnati Children's Hospital — Cincinnati, Ohio, United States (Recruiting)

Study contacts

• Principal investigator: Paul Kingma, MD, PhD — Children's Hospital Medical Center, Cincinnati
• Study coordinator: Paul Kingma, MD, PhD

Conditions Tracheoesophageal Fistula; Esophageal Atresia; Laryngeal Cleft; Tracheal Stenosis; Bronchial Stenosis; Esophageal Bronchus; Congenital High Airway Obstruction Syndrome; TEF