ClinicalTrials.gov
ClinicalTrials.gov Menu

Genetic and Nutritional Causes of Heart Birth Defects

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00368732
Recruitment Status : Completed
First Posted : August 25, 2006
Last Update Posted : July 29, 2016
Sponsor:
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Study Description
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief Summary:
Each year in the United States, thousands of babies are born with heart defects. Women who take folic acid during pregnancy have a lower risk of giving birth to infants with heart defects, but the reason for this remains unknown. This study will examine the relationship between genes, nutrition, and the occurrence of heart defects in infants.

Condition or disease
Heart Defects, Congenital

Detailed Description:

Congenital heart defects are the most common type of birth defect; each year, more than 30,000 babies in the United States are born with this kind of abnormality. Conotruncal heart defects, considered to be a very serious type of defect, involve a structural abnormality in the chambers of the heart or blood vessels that lead to and from the heart. Infants born with conotruncal defects must undergo complex open heart surgery, and there is a high fatality rate. Folic acid supplementation during pregnancy has been shown to reduce the risk of conotruncal defects. However, some women who take folic acid during pregnancy still give birth to infants with conotruncal defects. Specific genes may influence the way individuals metabolize folic acid, and variations in these genes may make some infants more prone to developing heart defects. This study will examine the relationship between genes, maternal nutritional intake, and conotruncal heart defects. The results from this study may help to determine genetic and nutritional causes of congenital heart defects.

This study will use previously collected data on 550 infants born with conotruncal defects and 1060 infants born without heart defects. There will be no study visits specifically for this study. Infant DNA will be analyzed for genes that may play a role in folate metabolic pathways. Blood previously collected from the mothers during pregnancy will be analyzed for differences in nutrient intake. Specifically, levels of folic acid, choline, vitamin B12, and methionine will be examined.


Study Design
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type : Observational
Actual Enrollment : 1610 participants
Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Gene and Nutrient Etiologies of Human Heart Defects
Study Start Date : July 2006
Actual Study Completion Date : December 2006

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information


Outcome Measures
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Biospecimen Retention:   Samples With DNA
Buccal cell collection

Eligibility Criteria
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   up to 12 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Mothers of babies with heart defects and mothers of babies without any malformation.
Criteria

Inclusion Criteria:

  • Conotruncal heart defect

Exclusion Criteria:

  • If part of control group, must not have heart defect
Contacts and Locations
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

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): NCT00368732


Locations
United States, California
California Birth Defects Monitoring Program
Berkeley, California, United States, 94710
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Gary M. Shaw, DrPH California Birth Defects Monitoring Program
More Information
Go to 
Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Additional Information:
Click here for the California Birth Defects Monitoring Program web site  This link exits the ClinicalTrials.gov site

Responsible Party: Gary M. Shaw, DrPH, California Birth Defects Monitoring Program
ClinicalTrials.gov Identifier: NCT00368732     History of Changes
Other Study ID Numbers: 1352
R01HL085859 ( U.S. NIH Grant/Contract )
First Posted: August 25, 2006    Key Record Dates
Last Update Posted: July 29, 2016
Last Verified: December 2007

Keywords provided by National Heart, Lung, and Blood Institute (NHLBI):
Congenital Heart Defects

Additional relevant MeSH terms:
Congenital Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases