Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02432079
Recruitment Status : Recruiting
First Posted : May 1, 2015
Last Update Posted : July 28, 2020
Sponsor:
Information provided by (Responsible Party):
Stephanie Ware, Indiana University

Study Description
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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.

Condition or disease
Heterotaxy Syndrome Congenital Heart Defects

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 Design
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for study information
Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Study Start Date : July 2009
Estimated Primary Completion Date : June 2025
Estimated Study Completion Date : June 2028

Resource links provided by the National Library of Medicine


Groups and Cohorts
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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


Outcome Measures
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples With DNA
Whole Blood, Tissue Sample, Cheek Swabs, Saliva

Eligibility Criteria
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
children affected with heterotaxy syndrome and/or congenital heart defects and their relatives
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
Contacts and Locations
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02432079


Contacts
Layout table for location contacts
Contact: Lindsey R. Elmore, BA, BS 317-278-3020 lhelvaty@iupui.edu
Contact: Stephanie M. Ware, MD, PhD 317-278-2807 stware@iu.edu

Locations
Layout table for location information
United States, Indiana
Indiana University School of Medicine Recruiting
Indianapolis, Indiana, United States, 46202
Contact: Lindsey R Elmore, BA, BS    317-278-3020    lhelvaty@iupui.edu   
Contact: Stephanie M Ware, MD, PhD    317-278-2807    stware@iu.edu   
Sponsors and Collaborators
Indiana University
Investigators
Layout table for investigator information
Principal Investigator: Stephanie M. Ware, MD, PhD Indiana University School of Medicine
More Information
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Layout table for additonal information
Responsible Party: Stephanie Ware, Professor of Pediatrics and Medical and Molecular Genetics, Indiana University
ClinicalTrials.gov Identifier: NCT02432079    
Other Study ID Numbers: 1403871897
First Posted: May 1, 2015    Key Record Dates
Last Update Posted: July 28, 2020
Last Verified: July 2020
Keywords provided by Stephanie Ware, Indiana University:
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
Additional relevant MeSH terms:
Layout table for MeSH terms
Heart Defects, Congenital
Heterotaxy Syndrome
Syndrome
Disease
Pathologic Processes
Cardiovascular Abnormalities
 Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Splenic Diseases
Lymphatic Diseases
Abnormalities, Multiple