Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2013 by Massachusetts General Hospital
Sponsor:
Collaborator:
Children's Hospital Boston
Information provided by (Responsible Party):
Patricia Donahoe, MD, Massachusetts General Hospital
ClinicalTrials.gov Identifier:
NCT01098929
First received: March 31, 2010
Last updated: November 7, 2013
Last verified: November 2013

March 31, 2010
November 7, 2013
July 2002
July 2015   (final data collection date for primary outcome measure)
identify genes associated with CDH [ Time Frame: 5 years ] [ Designated as safety issue: No ]
identify genes associated w/CDH [ Time Frame: 5 years ] [ Designated as safety issue: No ]
Complete list of historical versions of study NCT01098929 on ClinicalTrials.gov Archive Site
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Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia

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.

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.

Observational
Observational Model: Case-Only
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

whole blood, tissue, saliva, urine

Probability Sample

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

Congenital Diaphragmatic Hernia
Not Provided
  • Congenital Diaphragmatic Hernia (CDH)
    Individuals affected with congenital diaphragmatic hernia (CDH)
  • Unaffected
    Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1000
July 2015
July 2015   (final data collection date for primary outcome measure)

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

Both
Not Provided
Yes
Contact: Meaghan Russell, MPH, PhD 617-726-0828 mrussell@partners.org
Contact: Jessica Kim, BS 617-355-2555 jessica.kim2@childrens.harvard.edu
United States
 
NCT01098929
05-07-105R
Yes
Patricia Donahoe, MD, Massachusetts General Hospital
Massachusetts General Hospital
Children's Hospital Boston
Principal Investigator: Patricia Donahoe, MD Massachusetts General Hospital
Principal Investigator: Jay Wilson, MD Children's Hospital Boston
Massachusetts General Hospital
November 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP