Congenital Heart Disease Research Registry (CHDRR)

The Congenital Heart Disease Research Registry (CHDRR) is a program dedicated to understanding the etiology and improving the treatment of Congenital Heart Disease (CHD). This Registry will act as a central coordinating center for recruiting subjects with CHD and will provide infrastructure and guidelines for researchers studying the causes and treatment of CHD. Investigators working directly with the Registry will have access to biological, demographic and phenotype data from a significant pool of participants with CHD.

Study Overview

• Status: Terminated
• Conditions: Congenital Heart Disease

Detailed Description

The Registry will recruit participants from either new referrals for evaluation of potential CHD or from patients who are being followed within the Children's Healthcare of Atlanta Sibley Heart Center or Emory University Adult Congenital Heart Clinic with specific diagnoses and therapy. Participants will provide a biological sample (blood), demographic data, medical records and phenotypic data, and assessment data. These data will be stored in a secure database accessible only to investigators with research projects that have been approved by the IRB and by the executive committee of the CHDRR. The executive committee of the CHDRR will contain at least one member from each of the following: Sibley Heart Center, Emory Pediatric Cardiac Surgery Division, and Emory-Egleston Children's Research Center. This committee will meet quarterly to discuss patient enrollment, patient safety issues, and data integrity. They will also meet as needed to discuss any applications for sample utilization and study publications.

Blood and serum collected from Registry members will be cryopreserved for potential future genetic and/or protein-based studies. Note that no genotyping or analysis will be done by the Registry. The data collected is meant to give future researchers a base of information to establish eligibility for their specific studies. It is the goal of the Registry to work with researchers to gain IRB approval either to access scrubbed data or to contact Registry members for potential enrollment in any IRB-approved studies that would require access to private healthcare information (PHI).

Approved investigators can use the Registry database in two ways: 1) to query and extract data that have been scrubbed of identifiers, utilizing bar-code linked, de-identified blood or serum; and 2) to identify Registry members who are eligible for specific research projects requiring further patient contact. In the latter application, the investigators will identify potential participants via the scrubbed data, but will not have access to personal information during the initial identification process. The Registry research coordinator will then contact the identified Registry members, explain the study, and request consent to give their contact information to the investigator. The investigator will then contact consenting, eligible members using their IRB approved, project-specific protocol. In both applications, IRB approval will be required before the Registry database will be accessed or samples released for study. Further, investigators will be required to report participation outcomes of eligible Registry members to the Registry research coordinator. The Registry research coordinator will track participation/refusal/non-participation of each Registry member who is identified and contacted for additional research projects.

• Study Type: Observational
• Enrollment (Actual): 861

Contacts and Locations

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Children's Healthcare of Atlanta

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All patients with suspected or diagnosed with congenital heart disease receiving care at Children's Healthcare of Atlanta or Emory University Adult Congenital Heart Clinic

Description

Inclusion Criteria:

• All patients suspected or diagnosed with congenital heart disease receiving care at Children's Healthcare of Atlanta or Emory University Adult Congenital Heart Clinic and willing to sign informed consent.

Exclusion Criteria:

• Not referred or diagnosed with CHD
• No informed consent

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Congenital heart disease; All subjects will have known or suspected congenital heart disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
There is no outcome measure. This is a data, blood and serum collection only to provide a base for future studies	We will be collecting samples for a minimum of 40 years.

Collaborators and Investigators

• Sponsor: Emory University
• Investigators: Principal Investigator: Paul M Kirshbom, MD, Emory University

Publications and helpful links

General Publications

• Walther T, Schubert A, Falk V, Binner C, Walther C, Doll N, Fabricius A, Dhein S, Gummert J, Mohr FW. Left ventricular reverse remodeling after surgical therapy for aortic stenosis: correlation to Renin-Angiotensin system gene expression. Circulation. 2002 Sep 24;106(12 Suppl 1):I23-6.
• McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol. 2003 Nov 5;42(9):1650-5. doi: 10.1016/j.jacc.2003.05.004.
• Lambrechts D, Devriendt K, Driscoll DA, Goldmuntz E, Gewillig M, Vlietinck R, Collen D, Carmeliet P. Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet. 2005 Jun;42(6):519-22. doi: 10.1136/jmg.2004.026443. No abstract available.
• Goldmuntz E. The genetic contribution to congenital heart disease. Pediatr Clin North Am. 2004 Dec;51(6):1721-37, x. doi: 10.1016/j.pcl.2004.08.006.
• Kerstann KF, Feingold E, Freeman SB, Bean LJ, Pyatt R, Tinker S, Jewel AH, Capone G, Sherman SL. Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol. 2004 Nov;27(3):240-51. doi: 10.1002/gepi.20019.

Study record dates

Study Major Dates

• Study Start: January 1, 2008
• Primary Completion (Actual): February 1, 2010
• Study Completion (Actual): February 1, 2010

Study Registration Dates

• First Submitted: September 22, 2008
• First Submitted That Met QC Criteria: September 22, 2008
• First Posted (Estimate): September 23, 2008

Study Record Updates

• Last Update Posted (Estimate): December 9, 2014
• Last Update Submitted That Met QC Criteria: December 8, 2014
• Last Verified: December 1, 2014

More Information

Terms related to this study

• Keywords: Congenital Heart Disease
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Diseases; Heart Defects, Congenital
• Other Study ID Numbers: IRB00006304