Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Congenital Heart Defects Clinical Trial

Official title:

Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02432079
• Other study ID #: 1403871897
• Status: Recruiting
• Start date: July 2009
• Est. completion date: December 2030

Study information

• Verified date: February 2024
• Source: Indiana University
• Contact: Lindsey R. Helvaty, BA, BS
• Phone: 317-278-3020
• Email: lhelvaty[@]iu.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.

Description:

Heterotaxy syndrome is a rare birth defect that involves the heart and other organs. Many cases are genetic. Fundamental lack of information about the genetic basis of heterotaxy and related congenital heart defects in the vast majority of children has hindered management and therapy. The study outlined in this protocol is designed to obtain information about the causes of heterotaxy and related congenital heart defects. In this study, investigators will perform genetic analyses on patients with heterotaxy and related congenital heart defects, or individuals at risk for these abnormalities. The investigators will collect medical information related to symptoms and disease course. These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: December 2030
• Est. primary completion date: December 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Subjects with heterotaxy and related congenital heart defects

• Family members of subjects with heterotaxy and related congenital heart defects

Exclusion Criteria:

• Subjects without heterotaxy and related congenital heart defects

• Family members of subjects without heterotaxy and related congenital heart defects

Related Conditions & MeSH terms

• Congenital Heart Defects
• Heart Defects, Congenital
• Heterotaxy Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Indiana University School of Medicine	Indianapolis	Indiana

Sponsors (1)

Lead Sponsor	Collaborator
Indiana University

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects	These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects. This will provide the basis for future genetic testing and genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right asymmetry.	8 years