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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT01098929
Other study ID # 05-07-105R
Secondary ID
Status Recruiting
Phase N/A
First received March 31, 2010
Last updated December 16, 2015
Start date July 2002
Est. completion date July 2017

Study information

Verified date December 2015
Source Massachusetts General Hospital
Contact Jessica Kim, BS
Phone 617-355-2555
Email jessica.kim2@childrens.harvard.edu
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 1000
Est. completion date July 2017
Est. primary completion date July 2017
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group N/A and older
Eligibility 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

Study Design

Observational Model: Case-Only, Time Perspective: Prospective


Locations

Country Name City State
United States Children's Hospital Boston Boston Massachusetts

Sponsors (2)

Lead Sponsor Collaborator
Massachusetts General Hospital Children's Hospital Boston

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary identify genes associated with CDH 5 years No
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