Recruiting

Molecular GeneticsMolecular Genetics of Heterotaxy and Related Congenital Heart Defects

Sponsor:

Indiana University

Code:

NCT02432079

Conditions

Heterotaxy Syndrome

Congenital Heart Defects

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Heterotaxy Syndrome

Congenital Heart Defects

Study ID

NCT02432079

Start date

Jul, 2009

Status verified date

Jun, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

2000 participants

Anticipated

Interventions and Outcome Measures

Arms

Heterotaxy and congenital heart defects

Patients and family members with heterotaxy and related congenital heart defects

Primary outcome measure

Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects [ Time Frame: 8 years ]

Central Contacts and Locations

Central contacts

Sarah K. Murphy, MPH

317-278-3026 bankssk@iu.edu

Stephanie M. Ware, MD, PhD

317-278-2807 stware@iu.edu

Locations

Indiana University School of Medicine

Recruiting

Indianapolis, Indiana, United States, 46202

Contacts

Lindsey R Helvaty, BA, BS

317-278-3020 lhelvaty@iu.edu

Stephanie M Ware, MD, PhD

317-278-2807 stware@iu.edu

More Information

Sponsor

Indiana University

Last update posted

Jun 22, 2026

Last verified

Jun, 2026

Keywords

Abnormalities, Multiple
Asplenia
Bilary Atresia
Birth Defect
Cardiovascular Abnormalities
Cardiovascular Diseases
Congenital Abnormalities
Congenital Heart Disease
Dextrocardia Syndrome
Disturbed Internal Organ Positioning
Genetics
Genetic Testing
Heart Defects, Congenital
Heart Diseases
Heterotaxy syndrome
Intestinal malrotation
Laterality
Left Atrial Isomerism
Pediatrics
Polysplenia
Right Atrial Isomerism
Splenic Diseases
Cilia
Situs inversus
Dextrocardia

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Indiana University on 2026-06-22.