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Genetic Analysis of Congenital Diaphragmatic Disorders

Sponsor
University of Utah (Other)
Overall Status
Suspended
CT.gov ID
NCT01243229
Collaborator
(none)
305
Enrollment
2
Locations
124.9
Duration (Months)
152.5
Patients Per Site
1.2
Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    305 participants
    Observational Model:
    Other
    Time Perspective:
    Other
    Official Title:
    Genetic Analysis of Congenital Diaphragmatic Disorders
    Study Start Date :
    Oct 1, 2010
    Actual Primary Completion Date :
    Feb 28, 2018
    Anticipated Study Completion Date :
    Feb 28, 2021

    Outcome Measures

    Primary Outcome Measures

    1. Genes implicated in CDD can be identified by linkage analysis [5 years]

      Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis

    Secondary Outcome Measures

    1. Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH. [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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:
    • Diagnosed with a congenital diaphragmatic disorder
    Exclusion Criteria:
    • none

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Primary Children's Medical Center Salt Lake City Utah United States 84112
    2 University Hospital Salt Lake City Utah United States 84132

    Sponsors and Collaborators

    • University of Utah

    Investigators

    • Principal Investigator: Luca Brunelli, MD, University of Utah

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Luca Brunelli, M.D., University of Utah
    ClinicalTrials.gov Identifier:
    NCT01243229
    Other Study ID Numbers:
    • 35848
    First Posted:
    Nov 18, 2010
    Last Update Posted:
    Feb 5, 2020
    Last Verified:
    Jan 1, 2020
    Additional relevant MeSH terms:
    Diaphragmatic Eventration
    Hernias, Diaphragmatic, Congenital
    Hernia
    Hernia, Diaphragmatic
    Hernia, Hiatal

    Study Results

    No Results Posted as of Feb 5, 2020