Clinical Trials Logo

Clinical Trial Details — Status: Withdrawn

Administrative data

NCT number NCT00579358
Other study ID # OCRT07001 [2007-5805]
Secondary ID HS# 2007-5805
Status Withdrawn
Phase
First received
Last updated
Start date November 2007
Est. completion date November 2007

Study information

Verified date January 2021
Source University of California, Irvine
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Withdrawn
Enrollment 0
Est. completion date November 2007
Est. primary completion date November 2007
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States Taosheng Huang Orange California

Sponsors (1)

Lead Sponsor Collaborator
University of California, Irvine

Country where clinical trial is conducted

United States, 

See also
  Status Clinical Trial Phase
Completed NCT01671566 - Interval Training in Adults With Congenital Heart Disease a Randomized Trial N/A
Recruiting NCT01421030 - Outcomes in Patients and Their Closest Relatives Treated for Congenital Heart Disease With Catheter Based or Surgical Techniques Phase 0
Completed NCT01567579 - An Evaluation of Routine Developmental Follow-Up in Infants and Children With Congenital Heart Disease
Withdrawn NCT00981591 - Inhaled Iloprost as an Adjunct to Inhaled Nitric Oxide in Pediatric Critical Care Patients Phase 1/Phase 2
Terminated NCT00208676 - Using Tissue Doppler/Synchronization to Determine Heart Function in Children With Congenital Heart Disease N/A
Completed NCT01941576 - Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of Fallot N/A
Completed NCT01475357 - Intestinal Function in Neonates With Complex Congenital Heart Disease N/A
Active, not recruiting NCT01227096 - Randomized Controlled Trial of the Effects of Electroacupuncture Preconditioning in Children Undergoing Cardiac Surgery N/A
Completed NCT01201486 - Use of Color Doppler in Routine Examination of Fetal Heart in Second Trimester N/A
Completed NCT00397514 - Assessing the Hemodynamic Benefits of Cardiac Resynchronization Therapy in Children Following Open-Heart Surgery N/A
Completed NCT02232399 - Is Levosimendan Superior to Milrinone Regarding Acute Kidney Injury After Cardiac Surgery for Congenital Heart Disease? Phase 2
Completed NCT05191654 - Investigation of Cardiopulmonary Parameters, Motor Development and Muscle Strength in DS With and Without CHD
Recruiting NCT06267859 - Development of Methods for Effective Treatment and Improvement of Common Somatic Diseases in Children Early Phase 1
Completed NCT02320669 - Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass Phase 3
Completed NCT01489475 - Plasma Angiopoietin Levels in Children Following Cardiopulmonary Bypass N/A
Recruiting NCT01196182 - Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
Recruiting NCT03822442 - MRI to Predict Rejection and Failure in Transplant and Cardiomyopathy Patients
Recruiting NCT04382573 - Better Delineation of CDK13 Related Phenotype and Epigenetic Signature.
Completed NCT00450684 - Cardiac Resynchronization Therapy in Congenital Heart Defects Phase 2/Phase 3
Terminated NCT00208754 - Heart Failure in Adult Patients With a History of Congenital Heart Disease N/A