Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
|ClinicalTrials.gov Identifier: NCT01098929|
Recruitment Status : Unknown
Verified December 2015 by Patricia Donahoe, MD, Massachusetts General Hospital.
Recruitment status was: Recruiting
First Posted : April 5, 2010
Last Update Posted : December 17, 2015
|Condition or disease|
|Congenital Diaphragmatic Hernia|
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.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia|
|Study Start Date :||July 2002|
|Estimated Primary Completion Date :||July 2017|
|Estimated Study Completion Date :||July 2017|
Congenital Diaphragmatic Hernia (CDH)
Individuals affected with congenital diaphragmatic hernia (CDH)
Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)
- identify genes associated with CDH [ Time Frame: 5 years ]
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01098929
|Contact: Jessica Kim, BSfirstname.lastname@example.org|
|United States, Massachusetts|
|Children's Hospital Boston||Recruiting|
|Boston, Massachusetts, United States, 02215|
|Contact: Jessica Kim, BS 617-355-2555 email@example.com|
|Principal Investigator: Jay Wilson, MD|
|Principal Investigator:||Patricia Donahoe, MD||Massachusetts General Hospital|
|Principal Investigator:||Jay Wilson, MD||Boston Children’s Hospital|