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Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia

This study is currently recruiting participants.
Verified December 2015 by Patricia Donahoe, MD, Massachusetts General Hospital
Sponsor:
ClinicalTrials.gov Identifier:
NCT01098929
First Posted: April 5, 2010
Last Update Posted: December 17, 2015
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Boston Children’s Hospital
Information provided by (Responsible Party):
Patricia Donahoe, MD, Massachusetts General Hospital
  Purpose
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
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 Patricia Donahoe, MD, Massachusetts General Hospital:

Primary Outcome Measures:
  • identify genes associated with CDH [ Time Frame: 5 years ]

Biospecimen Retention:   Samples With DNA
whole blood, tissue, saliva, urine

Estimated Enrollment: 1000
Study Start Date: July 2002
Estimated Study Completion Date: July 2017
Estimated Primary Completion Date: July 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts
Congenital Diaphragmatic Hernia (CDH)
Individuals affected with congenital diaphragmatic hernia (CDH)
Unaffected
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.

  Eligibility

Information from the National Library of Medicine

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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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01098929


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

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 Submitted: March 31, 2010
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