Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science



Status:Recruiting
Conditions:Gastrointestinal
Therapuetic Areas:Gastroenterology
Healthy:No
Age Range:Any
Updated:2/21/2019
Start Date:June 2005
End Date:November 2025
Contact:Julia Wynn, MS
Email:jw2500@columbia.edu
Phone:212-305-6987

Use our guide to learn which trials are right for you!

The goal of this study is to identify genes that convey susceptibility to congenital
diaphragmatic hernia in humans. The identification of such genes, and examination of their
structure and function, will enable a delineation of molecular pathogenesis and, ultimately,
prevention or treatment of congenital diaphragmatic hernia. There are many different possible
modes of inheritance for congenital anomalies, including autosomal dominant, autosomal
recessive, and multifactorial. Multi-factorial inheritance is responsible for many common
medical disorders, including hypertension, myocardial infarction, diabetes and cancer. This
type of inheritance pattern appears to involve environmental factors as well as a combination
of genetic variations that together can predispose to or produce congenital anomalies, such
as congenital diaphragmatic hernia.

Our study is designed to establish a small, well-defined genetic resource consisting of 1)
Nuclear families suitable for linkage analysis by parametric,non-parametric (e.g. sib pairs,
TDT) and association techniques, 2) Individuals with congenital diaphragmatic hernia who can
be directly screened for allelic variation in candidate genes, and 3) Individuals who can
serve as controls (are unaffected by congenital diaphragmatic hernia). Neonates and their
families will be collected from homogenous and heterogeneous populations. By characterizing
diverse populations, it should be possible to increase the likelihood of demonstration of
genetic variation in selected candidate genes that can then be used in association and
linkage studies in individual subjects with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a birth defect that occurs when the diaphragm (thin
sheet of muscle that separates the abdomen from the chest) does not form properly. When an
opening is present in the diaphragm, organs that are normally in the abdomen can be pushed
(herniated) through the opening and be present in the chest. Currently little is known about
why this birth defect occurs.

Through this study ""Molecular Genetic Analysis of Congenital Diaphragmatic Hernia" the
investigators hope to learn more about whether certain genes contribute to CDH. Genes are the
instructions or blueprints for our bodies. They tell our bodies how to grow and develop.
Sometimes when a mistake occurs in one or more of our genes our body does not develop
properly and this can lead to a CDH. The investigators hope that the information gained
through studying the genes of children with CDH and their parents, will lead to significant
advances in the diagnosis, prognosis, prevention, and treatment of this disease.

Inclusion Criteria:

- All individuals affected with a congenital diaphragmatic hernia (CDH), or with a
family history of a CDH

Exclusion Criteria:

- Individuals with no personal history of a CDH or family history of a family member
affected with congenital diaphragmatic hernia
We found this trial at
12
sites
Pittsburgh, Pennsylvania 15213
Principal Investigator: Douglas Potoka, MD
Phone: 412-692-7440
?
mi
from
Pittsburgh, PA
Click here to add this to my saved trials
Ann Arbor, Michigan 48167
Principal Investigator: George Mychalisa, MD, MS
Phone: 734-763-2072
?
mi
from
Ann Arbor, MI
Click here to add this to my saved trials
Cairo,
Principal Investigator: Mahmoud Elfiky, MD
Phone: 201001557755
?
mi
from
Cairo,
Click here to add this to my saved trials
Cincinnati, Ohio 45229
Principal Investigator: Foong Yen Lim, MD
Phone: 513-803-0745
?
mi
from
Cincinnati, OH
Click here to add this to my saved trials
Dallas, Texas 75235
Phone: 214-456-6040
?
mi
from
Dallas, TX
Click here to add this to my saved trials
Manhasset, New York 11030
Principal Investigator: Samuel Soffer, MD
?
mi
from
Manhasset, NY
Click here to add this to my saved trials
8701 W Watertown Plank Rd
Milwaukee, Wisconsin
(414) 955-8296
Principal Investigator: Amy Wagner, MD
Phone: 414-266-6438
Medical College of Wisconsin The Medical College (MCW) of Wisconsin is a major national research...
?
mi
from
Milwaukee, WI
Click here to add this to my saved trials
Nashville, Tennessee 37232
Principal Investigator: Dai H Chung, MD
Phone: 615-936-1050
?
mi
from
Nashville, TN
Click here to add this to my saved trials
New York, New York 10032
Principal Investigator: Wendy Chung, MD, PhD
Phone: 212-305-6987
?
mi
from
New York, NY
Click here to add this to my saved trials
Omaha, Nebraska 68114
Principal Investigator: Brad Warner, MD
Phone: 402-955-7400
?
mi
from
Omaha, NE
Click here to add this to my saved trials
?
mi
from
Portland, OR
Click here to add this to my saved trials
Saint Louis, Missouri 63110
Principal Investigator: Brad Warner, MD
Phone: 314-454-6022
?
mi
from
Saint Louis, MO
Click here to add this to my saved trials