Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2014 by Massachusetts General Hospital
Children's Hospital Boston
Information provided by (Responsible Party):
Patricia Donahoe, MD, Massachusetts General Hospital Identifier:
First received: March 31, 2010
Last updated: December 1, 2014
Last verified: December 2014

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.

Congenital Diaphragmatic Hernia

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia

Resource links provided by NLM:

Further study details as provided by Massachusetts General Hospital:

Primary Outcome Measures:
  • identify genes associated with CDH [ Time Frame: 5 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

whole blood, tissue, saliva, urine

Estimated Enrollment: 1000
Study Start Date: July 2002
Estimated Study Completion Date: July 2015
Estimated Primary Completion Date: July 2015 (Final data collection date for primary outcome measure)
Congenital Diaphragmatic Hernia (CDH)
Individuals affected with congenital diaphragmatic hernia (CDH)
Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)

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.


Genders Eligible for Study:   Both
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


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
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 identifier: NCT01098929

Contact: Jessica Kim, BS 617-355-2555

United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02215
Contact: Jessica Kim, BS    617-355-2555   
Principal Investigator: Jay Wilson, MD         
Sponsors and Collaborators
Massachusetts General Hospital
Children's Hospital Boston
Principal Investigator: Patricia Donahoe, MD Massachusetts General Hospital
Principal Investigator: Jay Wilson, MD Children's Hospital Boston
  More Information

No publications provided

Responsible Party: Patricia Donahoe, MD, Principal Investigator and Program Director, Pediatric Surgical Research Laboratories, Massachusetts General Hospital Identifier: NCT01098929     History of Changes
Other Study ID Numbers: 05-07-105R
Study First Received: March 31, 2010
Last Updated: December 1, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Massachusetts General Hospital:
chromosome microarray

Additional relevant MeSH terms:
Hernia, Diaphragmatic
Pathological Conditions, Anatomical processed this record on October 07, 2015