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Genetic Analysis of Congenital Diaphragmatic Disorders

NCT01243229 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 305

Last updated 2023-04-03

No results posted yet for this 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.

Conditions

  • Congenital Diaphragmatic Hernia
  • Congenital Diaphragmatic Eventration
  • Congenital Hiatal Hernia
  • Congenital Diaphragmatic Disorders

Sponsors & Collaborators

Principal Investigators

  • Luca Brunelli, MD · University of Utah

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2010-10-31
Primary Completion
2018-02-28
Completion
2021-06-01

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01243229 on ClinicalTrials.gov