Gene Mutation and Rescue in Human Congenital Diaphragmatic Hernia (CDH)
The purpose of this study is to generate information about the hereditary basis of Congenital Diaphragmatic Hernia (CDH) and abnormal lung development. Our long-term goal, is to identify ways to pre-treat babies in utero with effective but safe drugs to speed up lung development before birth.
Congenital Diaphragmatic Hernia
|Study Design:||Time Perspective: Prospective|
|Official Title:||Gene Mutation and Rescue in Human Congenital Diaphragmatic Hernia|
- identify genes associated w/CDH [ Time Frame: 5 years ] [ Designated as safety issue: No ]We have ongoing studies for additional 5 years, we hope to identify more genes associated w/CDH in hopes of improving outcomes for individuals with this condition.
Biospecimen Retention: Samples With DNA
blood, urine, skin biopsy, paraffin blocks
|Study Start Date:||July 2002|
|Estimated Study Completion Date:||July 2015|
|Estimated Primary Completion Date:||July 2015 (Final data collection date for primary outcome measure)|
Individuals with CDH
Any individual with Congenital Diaphragmatic Hernia (CDH)
The purpose of this study is to generate information about the hereditary basis of Congenital Diaphragmatic Hernia (CDH) and abnormal lung development. Our long-term goal is to identify ways to pre-treat babies in utero with effective but safe drugs to speed up lung development before birth.
Congenital Diaphragmatic Hernia (CDH) is a frequent and often fatal developmental condition that appears to be caused by diverse, including genetic, factors. This project uses a combination of clinical, molecular biological, and developmental strategies to identify genetic causes of this anomaly.
Ongoing projects at Massachusetts General Hospital include identification of novel genes contributing to lung and diaphragm development in: a) rodent models (using laser capture, microdissection, expression arrays, and statistical and bioinformatics analyses); and b) human kindreds having multiple family members affected with CDH (using linkage analysis and exome sequencing approaches).
In the portion of the project based at Children's Hospital Boston, ongoing projects include: a) continued recruitment of a cohort of patients with CDH who are carefully phenotyped for entry into a structurally sound database; b) collection and storage of biological materials 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 FISH.
Over 350 patients with CDH, and their parents, have been recruited to date. Efforts are ongoing to triple this number. The knowledge generated by uncovering genes responsible for CDH will provide the foundation for future efforts to develop effective interventions for this potentially devastating syndrome.
|Contact: Anna Frangulov, B.S.||617 355 2555||CDHResearchStudy@tch.harvard.edu|
|Contact: Meaghan Russell, PhD(c), MPH||617 726 email@example.com|
|United States, Massachusetts|
|Boston, Massachusetts, United States, 02114|
|Contact: Meaghan Russell, PhD(c), MPH 617-726-5057 firstname.lastname@example.org|
|Contact: Anna Frangulov, B.S. 617 355 2555 CDHResearchStudy@tch.harvard.edu|
|Principal Investigator: Patricia Donahoe, M.D.|
|Principal Investigator:||Patricia Donahoe, M.D.||Mass General Hospital|
|Principal Investigator:||Jay Wilson, M.D.||Children's Hospital Boston|