Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly. When an opening is present in the diaphragm, organs that are normally found in the abdomen can move up into the chest cavity. The primary objective of this study is to generate information about the hereditary basis of congenital diaphragmatic hernia and abnormal lung development. Our long-term goal is to identify ways to treat babies in utero with effective but safe drugs to speed up lung development before birth.

Condition or disease
Congenital Diaphragmatic Hernia

Detailed Description:

This study uses a combination of clinical, molecular biological, and developmental strategies to better understand the genetic basis of congenital diaphragmatic hernia. Ongoing projects at Massachusetts General Hospital include identification of novel genes affecting diaphragm and lung development in a) mouse models using laser capture, microdissection, expression arrays, and statistical and bioinformatics analysis and b) human kindreds with multiple affected family members using linkage analysis and exome sequencing.

Research projects based at Children's Hospital Boston include a) continued recruitment of a population of patients with congenital diaphragmatic hernia who are carefully phenotyped for entry into an extensive database, b) collection of biological samples belonging to the phenotyped cohort of patients, c) next-generation sequencing on candidate genes and d) molecular cytogenetic studies such as comparative genomic hybridization and subtelomeric fluorescence in situ hybridization.

Over 500 patients with congenital diaphragmatic hernia and their families have been recruited to date and efforts are ongoing to double this number. The investigators hope that the information gained through identifying the genes that contribute to congenital diaphragmatic hernia will provide the foundation for future efforts to develop effective interventions for the treatment of this disease.

Study Design

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Observational
Estimated Enrollment :	1000 participants
Observational Model:	Case-Only
Time Perspective:	Prospective
Official Title:	Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Study Start Date :	July 2002
Estimated Primary Completion Date :	July 2017
Estimated Study Completion Date :	July 2017

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort
Congenital Diaphragmatic Hernia (CDH); Individuals affected with congenital diaphragmatic hernia (CDH)
Unaffected; Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. identify genes associated with CDH [ Time Frame: 5 years ]

Biospecimen Retention:   Samples With DNA

whole blood, tissue, saliva, urine

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	Child, Adult, Senior
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	Yes
Sampling Method:	Probability Sample

Study Population

Children/infants with a congenital diaphragmatic hernia

Women who are currently pregnant with a fetus diagnosed with congenital diaphragmatic hernia

Individuals with a family history of congenital diaphragmatic hernia

Criteria

Inclusion Criteria:

All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of CDH

Exclusion Criteria:

Individuals with no personal or family history of a CDH

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

Contact: Jessica Kim, BS	617-355-2555	jessica.kim2@childrens.harvard.edu

Locations

United States, Massachusetts
Children's Hospital Boston	Recruiting
Boston, Massachusetts, United States, 02215
Contact: Jessica Kim, BS 617-355-2555 jessica.kim2@childrens.harvard.edu
Principal Investigator: Jay Wilson, MD

Sponsors and Collaborators

Massachusetts General Hospital

Boston Children’s Hospital

Investigators

Principal Investigator:	Patricia Donahoe, MD	Massachusetts General Hospital
Principal Investigator:	Jay Wilson, MD	Boston Children’s Hospital

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	Patricia Donahoe, MD, Principal Investigator and Program Director, Pediatric Surgical Research Laboratories, Massachusetts General Hospital
ClinicalTrials.gov Identifier:	NCT01098929 History of Changes
Other Study ID Numbers:	05-07-105R
First Posted:	April 5, 2010
Last Update Posted:	December 17, 2015
Last Verified:	December 2015

Keywords provided by Patricia Donahoe, MD, Massachusetts General Hospital:

genes; genetic; chromosome; chromosome microarray

Additional relevant MeSH terms:

Hernia; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Pathological Conditions, Anatomical; Congenital Abnormalities