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Molecular Basis of Congenital Heart Defects

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified November 2010 by University of California, Irvine.
Recruitment status was:  Recruiting
Sponsor:
ClinicalTrials.gov Identifier:
NCT00579358
First Posted: December 24, 2007
Last Update Posted: November 8, 2010
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.
Information provided by:
University of California, Irvine
  Purpose

Congenital heart disease is one of the most common malformations in newborns. About 1% of newborns have cardiac malformations. Many need open heart surgery, which contributes substantially to pediatric mortality and morbidity. Recent advances in genetics suggest that many congenital heart defects are caused by mutation of genes. So far, half a dozen genes are found to be associated with congenital heart diseases, such as TBX5, NKX2.5, and GATA4, to name a few. In the near future, more genes will be identified.

This study will evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation. The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases. The study will provide substantial information to understand how the human heart develops. In the future, prenatal diagnosis could be developed based on this study.


Condition
Congenital Heart Defects

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Molecular Basis of Congenital Heart Defects

Resource links provided by NLM:


Further study details as provided by University of California, Irvine:

Biospecimen Retention:   Samples With DNA
blood samples

Estimated Enrollment: 150
Study Start Date: November 2007
Estimated Study Completion Date: November 2010
Detailed Description:

Purpose:

The purpose of this study is to evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation.

Hypothesis:

The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases.

Study Design and Procedures:

This is a pilot study on mutation of genes in congenital heart diseases and genotype-phenotype correlation. Probands and family members are initially evaluated by a local physician or at the UCI Medical Center. A clinical diagnosis is made based on clinical information, echocardiography, EKG, and/or cardiac catheteration.

We would like to correlate the mutation the specific type of congenital heart defect. For example, if mutations of TBX5 more likely cause atrial-septal defects, ventricular-septal defects; mutations PTPN11 is more likely cause pulmonary stenosis.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

The characteristics of the proposed subject population include:

  • Children (male or female) who are able to give assent
  • Subjects diagnosed with congenital heart defects
  • Adults (male or female) who are competent to give informed consent
  • Subjects who are unable to read or speak English
  • Individuals of any ethnic origin
Criteria

Inclusion Criteria:

  • Adults and children (both parent's signature required) who are able to give informed consent
  • Adults or children who are prior diagnosed with congenital heart disease and/or who has immediate family member(s) with congenital heart disease (immediate family members include: subject's parents, siblings, and subject's children)

    • If subject is the only one affected and subject does not disclose of any family member being affected, than only subject will be enrolled
    • If subject is affected and disclose that a family member is affected, that family member will be contacted (with permission) to participate in the study
  • Patients of all ethnical origin

Exclusion Criteria:

  • Patients diagnosed with no congenital heart disease (as determined by their medical assessment); (if subjects who are unaffected disclose that a family member is affected, with permission, that family will be contacted for participation)
  • Patients who are unable to provide informed consent/assent
  Contacts and Locations
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): NCT00579358


Contacts
Contact: Taosheng Huang, M.D., Ph.D (949) 824-9346 huangts@uci.edu

Locations
United States, California
Taosheng Huang Recruiting
Orange, California, United States, 92868
Contact: Taosheng Huang, M.D., Ph.D    949-824-9346    huangts@uci.edu   
Sponsors and Collaborators
University of California, Irvine
Investigators
Principal Investigator: Taosheng Huang, MD University of California, Irvine
  More Information

Responsible Party: Taosheng Huang, M.D., Ph.D., University of California, Irvine
ClinicalTrials.gov Identifier: NCT00579358     History of Changes
Other Study ID Numbers: OCRT07001
HS# 2007-5805
First Submitted: December 18, 2007
First Posted: December 24, 2007
Last Update Posted: November 8, 2010
Last Verified: November 2010

Keywords provided by University of California, Irvine:
Congenital heart defects

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