Genetic Determinants of Congenital Heart Disease Outcomes

NCT01656941 | Completed

• 1 other identifier: GECHO
• Study Type: observational
• Target: 250
• Locations: 2 countries
• Sites: 5

Brief Summary

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.

Conditions

Congenital Heart Disease; Hypoplastic Left Heart Syndrome; Hypoplastic Right Heart Syndrome; d-Transposition of the Great Arteries

Keywords

neonate; congenital heart disease; single ventricle cardiac disease; hypoplastic left heart syndrome; hypoplastic right heart syndrome; d-Transposition of the Great Arteries

Outcome Measures

Primary Outcomes (1)

• Contribution of genetic variation in oxidative stress management to differences in short term outcomes after repair for severe cardiac disease in the neonatal period

  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)

  Duration of initial perioperative hospitalization (~2-4 weeks)

Secondary Outcomes (1)

• 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

  Interval from hospital discharge following stage I surgical palliation until hospital admission for stage II surgical palliation (~4-6 months of age)

Study Arms (2)

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

Eligibility Criteria

• Age: Up to 30 Days
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Neonates with d-transposition of the great arteries undergoing the arterial switch procedure and neonates with single ventricle cardiac disease undergoing stage I surgical palliation at the University of Michigan or other collaborating institutions.

You may qualify if:

• 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

You may not qualify if:

• Known trisomy 13, 18, or 21
• Any major non-cardiac anomaly that precludes the patient from cardiac surgery

Sponsors & Collaborators

• University of Michigan: lead
• Royal Children's Hospital: collaborator
• Medical University of South Carolina: collaborator
• Emory University: collaborator
• Medical College of Wisconsin: collaborator

Study Sites (5)

Emory University

Atlanta, Georgia, 30322, United States

Location

C.S. Mott Children's Hospital, University of Michigan Health System

Ann Arbor, Michigan, 48109, United States

Location

Medical University of South Carolina

Charleston, South Carolina, 29403, United States

Location

Medical College of Wisconsin

Milwaukee, Wisconsin, 53226, United States

Location

The Royal Children's Hospial Melbourne

Melbourne, Victoria, 3052, Australia

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood samples will be frozen and stored until DNA can be isolated. Eventually, isolated DNA samples will be frozen and stored in a biorepository.

MeSH Terms

Conditions

Heart Defects, Congenital; Hypoplastic Left Heart Syndrome

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Nicole S Wilder, MD

  University of Michigan

  PRINCIPAL INVESTIGATOR

• Mark W Russell, MD

  University of Michigan

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Pediatric Cardiology and Professor of Pediatrics

Study Record Dates

• First Submitted: July 19, 2012
• First Posted: August 3, 2012
• Study Start: March 1, 2011
• Primary Completion: March 16, 2017
• Study Completion: March 16, 2017
• Last Updated: August 10, 2021

Record last verified: 2021-08

Locations

US (4); AU (1)