Genetic Determinants of Congenital Heart Disease Outcomes



Status:Recruiting
Conditions:Peripheral Vascular Disease, Cardiology
Therapuetic Areas:Cardiology / Vascular Diseases
Healthy:No
Age Range:Any
Updated:7/1/2018
Start Date:March 2011
End Date:December 2026
Contact:Monica Weber, BSN, RN, CCRP
Email:monij@med.umich.edu
Phone:(734) 763-2435

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The GECHO Trial: Genetic Determinants of Congenital Heart Disease Outcomes

The purpose of this study is to examine the role of genetic variation in the oxidative stress
response on critical perioperative and short-term outcomes after neonatal heart surgery. The
goals will be to determine 1) if the oxidative stress pathway is an important one for
therapeutic intervention in neonates with severe congenital heart defects and 2) if variants
in the oxidative response pathway can be used to identify patients at increased risk for
adverse outcomes.

For physicians caring for children with congenital cardiac defects, perhaps the greatest
challenge is to improve the survival and functional outcomes of patients with severe defects
requiring surgical repair or palliation in the first month of life. These cardiac defects can
be associated with 5 year mortality rates of up to 30% with significant disabilities in many
of the survivors. As with every medical condition, patient outcomes depend on the complex
interaction of the disease process, the medical and surgical interventions to treat the
disease, and the inherent capacity of the patient to respond to both the disease and its
treatment.

For patients with severe cardiac defects, the greatest risk for morbidity and mortality
occurs during and shortly after their neonatal surgical repair. During surgery to repair
severe cardiac defects, the body is cooled and the heart is stopped. In many cases, blood
flow to the vital organs is interrupted or restricted for a significant period of time while
the aortic arch is reconstructed. This process places profound stress on the patient's
capacity to tolerate these insults without sustaining irreversible injury to tissues such as
the heart, brain, and kidneys. That there is such a wide range of outcomes after this
surgery, even between patients with similar clinical features, suggests that there are
important individual differences in patients' abilities to respond to this stress that is
determined by differences in their genetic traits.

The importance of the interaction between the controlled trauma of the surgical environment
and a patient's genetic background in determining patient outcomes has led to the new
discipline of "peri-operative genomics." In this study, we will examine the contribution of
gene-environment interactions to perioperative and short-term outcomes in neonates with
severe congenital cardiac defects.

Inclusion Criteria:

- d-transposition of the great arteries or single ventricle cardiac disease

- Less than or equal to 30 days of age

- Planned arterial switch operation or stage I surgical palliation (Norwood)with aortic
arch reconstruction

Exclusion Criteria:

- Known trisomy 13, 18, or 21

- Any major non-cardiac anomaly that precludes the patient from cardiac surgery
We found this trial at
5
sites
50 Flemington Road
Melbourne, Victoria 3052
Principal Investigator: Michael Clifford, MD
Phone: 0393455522
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201 Dowman Dr
Atlanta, Georgia 30303
(404) 727-6123
Principal Investigator: William Mahle, MD
Phone: 404-256-2593
Emory University Emory University, recognized internationally for its outstanding liberal artscolleges, graduate and professional schools,...
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Atlanta, GA
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Ann Arbor, Michigan 48109
Principal Investigator: Nicole S Wilder, MD
Phone: 734-936-0734
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Ann Arbor, MI
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171 Ashley Avenue
Charleston, South Carolina 29425
843-792-1414
Principal Investigator: Andrew Atz, MD
Phone: 843-792-2945
Medical University of South Carolina The Medical University of South Carolina (MUSC) has grown from...
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Charleston, SC
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8701 W Watertown Plank Rd
Milwaukee, Wisconsin
(414) 955-8296
Medical College of Wisconsin The Medical College (MCW) of Wisconsin is a major national research...
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Milwaukee, WI
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