Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
305 participants
OBSERVATIONAL
2010-10-31
2021-06-01
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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OTHER
OTHER
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
Yes
Sponsors
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University of Utah
OTHER
Responsible Party
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Luca Brunelli
M.D.
Principal Investigators
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Luca Brunelli, MD
Role: PRINCIPAL_INVESTIGATOR
University of Utah
Locations
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Primary Children's Medical Center
Salt Lake City, Utah, United States
University Hospital
Salt Lake City, Utah, United States
Countries
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Other Identifiers
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35848
Identifier Type: -
Identifier Source: org_study_id
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