Genetic Analysis of Congenital Diaphragmatic Disorders

Utah System of Higher Education (USHE)

Status: Completed

Conditions: Congenital Diaphragmatic Disorders; Congenital Diaphragmatic Eventration; Congenital Diaphragmatic Hernia; Congenital Hiatal Hernia

Study type: Observational

Funder types: Other

Identifiers

NCT01243229

35848

Details and patient eligibility

About

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.

Enrollment: 305 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Diagnosed with a congenital diaphragmatic disorder

Exclusion criteria

• none