Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients (NCT03455881) | Clinical Trial Compass
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Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
United States360 participantsStarted 2018-03-28
Plain-language 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 purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition.
The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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 o…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Genomic Sequencing
Timeframe: 1 day
2
Anatomic phenotypes using MRI
Timeframe: 1 day
Trial details
NCT IDNCT03455881
SponsorChildren's Hospital Medical Center, Cincinnati