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NCT01243229 · ClinicalTrials.gov registry record
Genetic Analysis of Congenital Diaphragmatic Disorders
A clinical trial, sponsored by University of Utah.
- Completed
- Registry status
- 305
- Enrollment target
NCT01243229: Completed study, sponsored by University of Utah.
NCT01243229 is a clinical trial that has completed, run by University of Utah. The registered enrollment target is 305 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT01243229 has completed, sponsored by University of Utah.
- COMPLETED
- Registry status
- 305 participants
- Enrollment target
Study Summary
The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia. Specifically, the investigators plan to: 1. Ascertain informative families and sporadic cases with congenital diaphragmatic disorders and obtain appropriate phenotypic data and genetic material (peripheral blood and/or diaphragm tissue sample). 2. Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD. 3. Isolate and characterize genes involved in the pathogenesis of CDD. 4. Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations. 5. Compare RNA-sequencing from tissue samples of children without CDH to those children with CDH.
Primary Outcome
Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 305 participants |
| Start Date | 2010-10 |
| Est. Completion | 2021-06-01 |
What the finished NCT01243229 record still lists
NCT01243229 is an observational study that tracks outcomes without assigning an intervention. The registered 305 participants enrollment target is mid-sized for trials with a published cap.
The record links to 0 conditions, and to 0 interventions.
NCT01243229 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT01243229 about?
NCT01243229 is a clinical study titled "Genetic Analysis of Congenital Diaphragmatic Disorders". The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia. Specifically, the investigators plan to: 1. Ascertain informative families and sporadic cases with congenital diap...
What is the current status of trial NCT01243229?
This trial is currently completed. The enrollment target is 305 participants. The study started on 2010-10. Estimated completion is 2021-06-01.
Who is sponsoring clinical trial NCT01243229?
This trial is sponsored by University of Utah, which has 818 total clinical trials registered on ClinicalTrials.gov.
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