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Genetic Analysis of Congenital Diaphragmatic Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2017 by University of Utah
Sponsor:
Information provided by:
University of Utah
ClinicalTrials.gov Identifier:
NCT01243229
First received: November 16, 2010
Last updated: March 9, 2017
Last verified: March 2017
  Purpose

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.

Condition
Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Eventration
Congenital Hiatal Hernia
Congenital Diaphragmatic Disorders

Study Type: Observational
Study Design: Observational Model: Other
Time Perspective: Other
Official Title: Genetic Analysis of Congenital Diaphragmatic Disorders

Resource links provided by NLM:


Further study details as provided by University of Utah:

Primary Outcome Measures:
  • Genes implicated in CDD can be identified by linkage analysis [ Time Frame: 5 years ]
    Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis


Secondary Outcome Measures:
  • Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH. [ Time Frame: 5 years ]
    Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations by localizing the gene(s) for CDH to specific chromosomal segments using linkage analysis in familial cases. In sporadic cases, characterize the role of somatic mutations in CDDs by using a candidate gene approach, and comparative genomic hybridization (CGH) arrays.


Biospecimen Retention:   Samples With DNA
Blood or buccal swabs

Estimated Enrollment: 400
Study Start Date: October 2010
Estimated Study Completion Date: February 2018
Estimated Primary Completion Date: February 2018 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Newborns, children and adults affected by congenital disorders of the diaphragm, such as congenital diaphragmatic hernia, eventration and hiatal hernia.
Criteria

Inclusion Criteria:

  • Diagnosed with a congenital diaphragmatic disorder

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01243229

Contacts
Contact: Carrie Rau, RN 801-213-3360 carrie.rau@hsc.utah.edu

Locations
United States, Utah
Primary Children's Medical Center Recruiting
Salt Lake City, Utah, United States, 84112
Contact: Marcia Feldkamp, MD    801-584-8490    marcia.feldkamp@hsc.utah.edu   
Principal Investigator: Marcia Feldkamp, MD         
University Hospital Recruiting
Salt Lake City, Utah, United States, 84132
Contact: Marcia Feldkamp, MD    801-584-8490    marcia.feldkamp@hsc.utah.edu   
Principal Investigator: Marcia Feldkamp, MD         
Sponsors and Collaborators
University of Utah
Investigators
Principal Investigator: Marcia Feldkamp, MD University of Utah
  More Information

Responsible Party: Luca Brunelli, MD, University of Utah School of Medicine
ClinicalTrials.gov Identifier: NCT01243229     History of Changes
Other Study ID Numbers: 35848
Study First Received: November 16, 2010
Last Updated: March 9, 2017

Additional relevant MeSH terms:
Hernia, Diaphragmatic
Hernias, Diaphragmatic, Congenital
Disease
Hernia
Hernia, Hiatal
Diaphragmatic Eventration
Pathologic Processes
Pathological Conditions, Anatomical
Congenital Abnormalities
Digestive System Abnormalities
Digestive System Diseases

ClinicalTrials.gov processed this record on April 24, 2017