Clinical trial NCT00757510: Congenital Heart Disease Research Registry
Official title: Congenital Heart Disease Research Registry
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Congenital Heart Disease
Keywords: Congenital Heart Disease
Lead sponsor: Emory University
Sponsor class: OTHER
First posted: 2008-09-23
Enrollment: 861
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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

Brief summary: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: There is no outcome measure. This is a data, blood and serum collection only to provide a base for future studies
timeFrame: We will be collecting samples for a minimum of 40 years.
Secondary outcomes:
Other outcomes:
Locations:
city: Atlanta
country: United States
facility: Children's Healthcare of Atlanta
state: Georgia
Study officials:
affiliation: Emory University
name: Paul M Kirshbom, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.