Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

Part of paid clinical trials in Chicago, Illinois.

Sponsor: Columbia University
Study ID: NCT00950118
Status: Recruiting

Conditions

Congenital Diaphragmatic Hernia

Eligibility Criteria

Sex: ALL
Age: N/A - N/A
Healthy Volunteers: Accepted

Study Details

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.

Key Dates

Start date: Jun 30, 2005
Status verified: Dec 2025
Primary completion: Sep 30, 2026
Completion: Sep 30, 2026

Study Design

Enrollment: 3,000 participants (estimated)

Arms

Arm: Congenital Diaphragmatic Hernia (CDH)
Humans affected with congenital diaphragmatic hernia (CDH)
Arm: Unaffected
Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)

Primary Outcome Measure

Percentage of patients with a genetic diagnosis [ Time Frame: 5 years ]

Central Contacts

Anah Kim Hetzler
[email protected]

Locations (13)

Facility	City	State	ZIP	Site coordinators
Rush Hospital	Chicago	Illinois	60612	Mindy Li, MD Alexa Hart, MS, CGC
University of Michigan/ CS Mott Children's Hospital	Ann Arbor	Michigan	48167-5245	George Mychalisa, MD, MS [email protected] 734-763-2072 Jeannie Kreutzman, RN, MSN [email protected] 734-763-2072 George Mychalisa, MD, MS (PRINCIPAL_INVESTIGATOR)
Washington University Medical Center/ St. Louis Children's Hospital	St Louis	Missouri	63110	Jessica Conway [email protected] Brad Warner, MD (PRINCIPAL_INVESTIGATOR)
Children's Hospital of Omaha/ University of Nebraska	Omaha	Nebraska	68114	Sheila Horak, APRN [email protected] Brad Warner, MD (PRINCIPAL_INVESTIGATOR)
Northwell Health	Manhasset	New York	11030	Samuel Soffer, MD [email protected] Samuel Soffer, MD (PRINCIPAL_INVESTIGATOR)
Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)	New York	New York	10032	Anah Kim Hetzler [email protected] 212-342-4622 Yufeng Shen, PhD (PRINCIPAL_INVESTIGATOR)
New York University, Hassenfeld Children's Hospital at NYU Langone Health	New York	New York	10016	Barbara Coons [email protected] Jason Fisher, MD (PRINCIPAL_INVESTIGATOR)
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati	Cincinnati	Ohio	45229	Trish Burns, BSN [email protected] 513-803-0745 Foong Yen Lim, MD (PRINCIPAL_INVESTIGATOR)
Oregon Health & Science University, Doernbecher Children's Hospital	Portland	Oregon	97239	Andrew Mason [email protected] Elizabeth Fialkowski, MD [email protected]
Children's Hospital of Pittsburgh/ University of Pittsburgh	Pittsburgh	Pennsylvania	15213	Min Shi, BSN [email protected] 412-692-7440 Paul Waltz, MD [email protected] Paul Waltz, MD (PRINCIPAL_INVESTIGATOR)
Monroe Carrell Jr Children's Hospital at Vanderbilt	Nashville	Tennessee	37232	-
UT Southwestern Medical Center, Children's Health, Dallas	Dallas	Texas	75235	David Schindel, MD [email protected] 214-456-6040
Medical College of Wisconsin	Milwaukee	Wisconsin	53226	-

Find similar trials in Chicago, IL

By research site

Rush Hospital· Chicago, IL University of Michigan/ CS Mott Children's Hospital· Ann Arbor, MI Washington University Medical Center/ St. Louis Children's Hospital· St Louis, MO Children's Hospital of Omaha/ University of Nebraska· Omaha, NE Northwell Health· Manhasset, NY Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)· New York, NY

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