Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

June 23, 2025 updated by: Stephanie Ware, Indiana University
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.

Study Overview

Status

Recruiting

Conditions

Detailed 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.

Study Type

Observational

Enrollment (Estimated)

2000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Stephanie M. Ware, MD, PhD
  • Phone Number: 317-278-2807
  • Email: stware@iu.edu

Study Contact Backup

  • Name: Lindsey R. Helvaty, BA, BS
  • Phone Number: 317-278-3020
  • Email: lhelvaty@iu.edu

Study Locations

  • United States
    • Indiana
      • Indianapolis, Indiana, United States, 46202
        • Recruiting
        • Indiana University School of Medicine
        • Contact:
          • Stephanie M Ware, MD, PhD
          • Phone Number: 317-278-2807
          • Email: stware@iu.edu
        • Contact:
          • Lindsey R Helvaty, BA, BS
          • Phone Number: 317-278-3020
          • Email: lhelvaty@iu.edu

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

children affected with heterotaxy syndrome and/or congenital heart defects and their relatives

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Heterotaxy and congenital heart defects
Patients and family members with heterotaxy and related congenital heart defects

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Time Frame: 8 years
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Indiana University

Investigators

  • Principal Investigator: Stephanie M. Ware, MD, PhD, Indiana University School of Medicine

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2009

Primary Completion (Estimated)

December 1, 2030

Study Completion (Estimated)

December 1, 2030

Study Registration Dates

First Submitted

April 28, 2015

First Submitted That Met QC Criteria

April 30, 2015

First Posted (Estimated)

May 1, 2015

Study Record Updates

Last Update Posted (Actual)

June 26, 2025

Last Update Submitted That Met QC Criteria

June 23, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1403871897

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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