An observational study in Congenital Diaphragmatic Hernia, sponsored by Massachusetts General Hospital. Status unknown at 1 site in United States. Per ClinicalTrials.gov, last updated 2015-12-17.
Sponsored by Massachusetts General Hospital · Observational
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.
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.
93 studies on the registry are indexed under Hernias, Diaphragmatic, Congenital; 39 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 78 across 25 observational studies indexed under Hernias, Diaphragmatic, Congenital.
Browse Hernias, Diaphragmatic, Congenital studies →Massachusetts General Hospital is the lead sponsor of 2,536 studies on the registry; 446 are open to participants now.
Of its 214 completed or terminated interventional studies of FDA-regulated products, 161 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
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
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
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
This study is status unknown, as verified in Dec 2015. You cannot join it, but the record below documents what was studied.
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Hernias, Diaphragmatic, Congenital→
Massachusetts General Hospital