NCT00165984

Brief Summary

There are many kids born with congenital heart disease. Some of these defects may lead to the formation of a single ventricle (the heart having only one pumping chamber). These children normally undergo a series of corrective surgeries to help overcome the problems of having just one ventricle. However there are some differences in how well the patients respond to the surgeries. In the adult population, studies have shown that there may be a genetic link that may be responsible for the differences in how patients respond. The investigators would like to study the pediatric population by looking for certain genetic markers in the patients' blood. They will also collect basic health information on each patient.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
224

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2004

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2004

Completed
1.7 years until next milestone

First Submitted

Initial submission to the registry

September 9, 2005

Completed
5 days until next milestone

First Posted

Study publicly available on registry

September 14, 2005

Completed
4.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2010

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2010

Completed
1.8 years until next milestone

Results Posted

Study results publicly available

May 2, 2012

Completed
Last Updated

May 2, 2012

Status Verified

April 1, 2012

Enrollment Period

6.6 years

First QC Date

September 9, 2005

Results QC Date

November 11, 2011

Last Update Submit

April 4, 2012

Conditions

Congenital Heart Disease

Keywords

cardiachypoplasticpediatrichypoplastic heart ventricle

Outcome Measures

Primary Outcomes (2)

  • To Evaluate the Incidence of the Pre-proendothelin SNP at Nucleotide 5665

    7 years

  • Survival

    Follow-up study designed to determine the impact of genetic factors on survival in single ventricle patients

    7 yr mean follow-up

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

All pediatric single ventricle patients or pediatric patients previously transplanted for single ventricle, who undergo an invasive procedure (surgery or catheterization) will be a candidate for enrollment in the study.

You may qualify if:

  • Children who currently have functional single ventricle anatomy or have had heart transplantation for single ventricle anatomy who receive their cardiac care at Children's Healthcare of Atlanta, Egleston Hospital.
  • Family agrees to participate in the study following informed consent

You may not qualify if:

  • Conversion to two ventricle physiology, excluding transplantation.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's Healthcare of Atlanta at Egleston

Atlanta, Georgia, 30322, United States

Location

Related Publications (4)

  • Marian AJ, Yu QT, Workman R, Greve G, Roberts R. Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet. 1993 Oct 30;342(8879):1085-6. doi: 10.1016/0140-6736(93)92064-z.

    PMID: 8105312BACKGROUND

  • Small KM, Wagoner LE, Levin AM, Kardia SL, Liggett SB. Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med. 2002 Oct 10;347(15):1135-42. doi: 10.1056/NEJMoa020803.

    PMID: 12374873BACKGROUND

  • Iglarz M, Benessiano J, Philip I, Vuillaumier-Barrot S, Lasocki S, Hvass U, Durand G, Desmonts JM, Levy BI, Henrion D. Preproendothelin-1 gene polymorphism is related to a change in vascular reactivity in the human mammary artery in vitro. Hypertension. 2002 Feb;39(2):209-13. doi: 10.1161/hy0202.103442.

    PMID: 11847185BACKGROUND

  • Wagoner LE, Craft LL, Zengel P, McGuire N, Rathz DA, Dorn GW 2nd, Liggett SB. Polymorphisms of the beta1-adrenergic receptor predict exercise capacity in heart failure. Am Heart J. 2002 Nov;144(5):840-6. doi: 10.1067/mhj.2002.125325.

    PMID: 12422153BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood and serum.

MeSH Terms

Conditions

Heart Defects, Congenital

Condition Hierarchy (Ancestors)

Cardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Limitations and Caveats

Relatively small number of patients given the low incidence of this mutation

Results Point of Contact

Title
Paul Kirshbom
Organization
Emory University
pkirshb@emory.edu
404-785-6330

Study Officials

  • Paul M Kirshbom, MD

    Emory University

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
Yes
Restrictive Agreement
No

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate professor of surgery

Study Record Dates

First Submitted

September 9, 2005

First Posted

September 14, 2005

Study Start

January 1, 2004

Primary Completion

August 1, 2010

Study Completion

August 1, 2010

Last Updated

May 2, 2012

Results First Posted

May 2, 2012

Record last verified: 2012-04

Locations

US(1)