Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

NCT02432079 | Recruiting

• 1 other identifier: 1403871897
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

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

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Heterotaxy and congenital heart defects

Patients and family members with heterotaxy and related congenital heart defects

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Indiana University: lead

Study Sites (1)

Indiana University School of Medicine

Indianapolis, Indiana, 46202, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole Blood, Tissue Sample, Cheek Swabs, Saliva

MeSH Terms

Conditions

Heterotaxy Syndrome; Heart Defects, Congenital; Abnormalities, Multiple; Congenital Abnormalities; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Volvulus Of Midgut; Splenic Diseases; Situs Inversus; Dextrocardia

Condition Hierarchy (Ancestors)

Lymphatic Diseases; Hemic and Lymphatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Stephanie M. Ware, MD, PhD

  Indiana University School of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lindsey R. Helvaty, BA, BS

CONTACT

317-278-3020; lhelvaty@iu.edu

Stephanie M. Ware, MD, PhD

CONTACT

317-278-2807; stware@iu.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Pediatrics and Medical and Molecular Genetics

Study Record Dates

• First Submitted: April 28, 2015
• First Posted: May 1, 2015
• Study Start: July 1, 2009
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: June 26, 2025

Record last verified: 2025-06

Locations

US (1)