Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
1 other identifier
observational
1,000
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jul 2002
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 1, 2002
CompletedFirst Submitted
Initial submission to the registry
March 31, 2010
CompletedFirst Posted
Study publicly available on registry
April 5, 2010
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 1, 2017
CompletedStudy Completion
Last participant's last visit for all outcomes
July 1, 2017
CompletedDecember 17, 2015
December 1, 2015
15 years
March 31, 2010
December 16, 2015
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
identify genes associated with CDH
5 years
Study Arms (2)
Congenital Diaphragmatic Hernia (CDH)
Individuals affected with congenital diaphragmatic hernia (CDH)
Unaffected
Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)
Eligibility Criteria
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
You may qualify if:
- All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of CDH
You may not qualify if:
- Individuals with no personal or family history of a CDH
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Massachusetts General Hospitallead
- Boston Children's Hospitalcollaborator
Study Sites (1)
Children's Hospital Boston
Boston, Massachusetts, 02215, United States
Biospecimen
whole blood, tissue, saliva, urine
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Patricia Donahoe, MD
Massachusetts General Hospital
- PRINCIPAL INVESTIGATOR
Jay Wilson, MD
Boston Children's Hospital
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Principal Investigator and Program Director, Pediatric Surgical Research Laboratories
Study Record Dates
First Submitted
March 31, 2010
First Posted
April 5, 2010
Study Start
July 1, 2002
Primary Completion
July 1, 2017
Study Completion
July 1, 2017
Last Updated
December 17, 2015
Record last verified: 2015-12