Genetic Determinants of Congenital Heart Disease Outcomes (GECHO)
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|ClinicalTrials.gov Identifier: NCT01656941|
Recruitment Status : Active, not recruiting
First Posted : August 3, 2012
Last Update Posted : June 26, 2019
|Condition or disease|
|Congenital Heart Disease Hypoplastic Left Heart Syndrome Hypoplastic Right Heart Syndrome d-Transposition of the Great Arteries|
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.
|Study Type :||Observational|
|Estimated Enrollment :||800 participants|
|Official Title:||The GECHO Trial: Genetic Determinants of Congenital Heart Disease Outcomes|
|Study Start Date :||March 2011|
|Estimated Primary Completion Date :||December 2024|
|Estimated Study Completion Date :||December 2026|
d-Transposition of the Great Arteries
Neonates with d-transposition of the great arteries (dTGA) undergoing the arterial switch operation with cardiopulmonary bypass
Single ventricle cardiac disease
Neonates with single ventricle cardiac disease (SVCD) undergoing stage I surgical palliation (Norwood) with cardiopulmonary bypass
- Contribution of genetic variation in oxidative stress management to differences in short term outcomes after repair for severe cardiac disease in the neonatal period [ Time Frame: Duration of initial perioperative hospitalization (~2-4 weeks) ]
Genotyping will be performed on 10 variants in the oxidative stress response pathway and we will combine risk genotypes in order to evaluate the cumulative effect of both detrimental and beneficial alleles on post-operative outcomes.
Composite short term outcome measure includes:
ICU length of stay (days) Time to initial extubation (hours) Cardiac arrest or ECMO support (Y/N) Delayed sternal closure (Y/N) Serious adverse event (Y/N) Greater than 1 serious adverse event (Y/N)
- Contribution of genetic variation in oxidative stress management to differences in interstage mortality and pre-Stage II cardiovascular function in patients with single ventricle cardiac disease [ Time Frame: Interval from hospital discharge following stage I surgical palliation until hospital admission for stage II surgical palliation (~4-6 months of age) ]
- Growth parameters (height, weight, head circumference)
- AV valve insufficiency (By echocardiogram and cardiac catheterization) , Ventricular function (ejection fraction by echocardiogram and by cardiac catheterization), Central venous pressure and ventricular end diastolic pressure (by catheterization), Interstage Death (Y/N).
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01656941
|United States, Georgia|
|Atlanta, Georgia, United States, 30322|
|United States, Michigan|
|C.S. Mott Children's Hospital, University of Michigan Health System|
|Ann Arbor, Michigan, United States, 48109|
|United States, South Carolina|
|Medical University of South Carolina|
|Charleston, South Carolina, United States, 29403|
|United States, Wisconsin|
|Medical College of Wisconsin|
|Milwaukee, Wisconsin, United States, 53226|
|The Royal Children's Hospial Melbourne|
|Melbourne, Victoria, Australia, 3052|
|Principal Investigator:||Nicole S Wilder, MD||University of Michigan|
|Principal Investigator:||Mark W Russell, MD||University of Michigan|