Molecular Genetics of Heterotaxy and Related Congenital H... | NCT02432079

Studies
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

NCT02432079

Sponsor

Indiana University

Status

Recruiting

Last Update Posted

Jun 22, 2026Actual

Enrollment

2,000Estimated

Phase

Not provided

Conditions

Heterotaxy Syndrome
Congenital Heart Defects

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jul 2009

Primary Completion Date

Dec 2030Estimated

Completion Date

Dec 2030Estimated

First Submitted Date

Apr 28, 2015

First Submission Date that Met QC Criteria

Apr 30, 2015

First Posted Date

May 1, 2015Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 17, 2026

Last Update Posted Date

Jun 22, 2026Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Stephanie Ware, Professor of Pediatrics and Medical and Molecular Genetics, Indiana UniversityPrincipal Investigator

Lead Sponsor

Indiana UniversityOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Conditions Module

Conditions

Heterotaxy Syndrome
Congenital Heart Defects

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

2,000Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Heterotaxy and congenital heart defects		Patients and family members with heterotaxy and related congenital heart defects

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Sarah K. Murphy, MPH	Contact	317-278-3026		bankssk@iu.edu
Stephanie M. Ware, MD, PhD	Contact	317-278-2807		stware@iu.edu

Overall Officials

Name	Affiliation	Role
Stephanie M. Ware, MD, PhD	Indiana University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Indiana University School of Medicine	Recruiting	Indianapolis	Indiana	46202	United States

Condition Browse Module

MeSH Terms

ID	Term
D059446	Heterotaxy Syndrome
D006330	Heart Defects, Congenital
D000015	Abnormalities, Multiple
D000013	Congenital Abnormalities
D018376	Cardiovascular Abnormalities
D002318	Cardiovascular Diseases
D006331	Heart Diseases
C562456	Volvulus Of Midgut
D013158	Splenic Diseases
D012857	Situs Inversus
D003914	Dextrocardia

Ancestor Terms

ID	Term
D008206	Lymphatic Diseases
D006425	Hemic and Lymphatic Diseases
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided