Molecular Basis of Congenital Heart Defects

NCT00579358 | Withdrawn

• 2 other identifiers: OCRT07001 [2007-5805]HS# 2007-5805
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Congenital Heart Defects

Keywords

Congenital heart defects

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of California, Irvine: lead

Study Sites (1)

Taosheng Huang

Orange, California, 92868, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood samples

MeSH Terms

Conditions

Heart Defects, Congenital

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Taosheng Huang, MD

  University of California, Irvine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 18, 2007
• First Posted: December 24, 2007
• Study Start: November 1, 2007
• Primary Completion: November 1, 2007
• Study Completion: November 1, 2007
• Last Updated: January 25, 2021

Record last verified: 2021-01

Locations

US (1)