Trial record 11 of 18 for:    "Congenital diaphragmatic hernia"

Genetic Analysis of Congenital Diaphragmatic Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by University of Utah
Sponsor:
Information provided by:
University of Utah
ClinicalTrials.gov Identifier:
NCT01243229
First received: November 16, 2010
Last updated: June 16, 2014
Last verified: June 2014
  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.

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

Study Type: Observational
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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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: October 2016
Estimated Primary Completion Date: October 2015 (Final data collection date for primary outcome measure)
  Eligibility

Genders Eligible for Study:   Both
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:

  • none
  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: Shawna Baker, RN 801-581-6737 shawna.baker@hsc.utah.edu

Locations
United States, Utah
University Hospital Recruiting
Salt Lake City, Utah, United States, 84132
Contact: Luca Brunelli, MD    801-581-7052    luca.brunelli@hsc.utah.edu   
Principal Investigator: Luca Brunelli, MD         
Sponsors and Collaborators
University of Utah
Investigators
Principal Investigator: Luca Brunelli, MD University of Utah
  More Information

No publications provided

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: June 16, 2014
Health Authority: United States: Institutional Review Board

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

ClinicalTrials.gov processed this record on July 22, 2014