Heterotaxy SyndromeNCT02432079
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
An observational study of Heterotaxy Syndrome and Congenital Heart Defects, run by Indiana University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Heterotaxy Syndrome, Congenital Heart Defects
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2009to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: children affected with heterotaxy syndrome and/or congenital heart defects and their relatives
Who may be able to join
- Subjects with heterotaxy and related congenital heart defects
- Family members of subjects with heterotaxy and related congenital heart defects
Who cannot join
- Subjects without heterotaxy and related congenital heart defects
- Family members of subjects without heterotaxy and related congenital heart defects
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Indiana University School of Medicine
Indianapolis, Indiana, 46202
Lindsey R Helvaty, BA, BS, 317-278-3020, lhelvaty@iu.edu
Stephanie M Ware, MD, PhD, 317-278-2807, stware@iu.edu
About this study
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.
Read the 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
- 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
- Medical subject headings
- Heterotaxy Syndrome, Heart Defects, Congenital, Abnormalities, Multiple, Congenital Abnormalities, Cardiovascular Abnormalities, Cardiovascular Diseases, Heart Diseases, Volvulus Of Midgut
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Heterotaxy and congenital heart defects | Patients and family members with heterotaxy and related congenital heart defects |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 8 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 May 2015 (estimated)
- Study startJul 2009
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Heterotaxy SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Indiana University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stephanie Ware, Indiana University
- Investigators
- Stephanie M. Ware, MD, PhD, Principal investigator, Indiana University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02432079
- Sponsor's protocol ID
- 1403871897
- Status last verified
- Jun 2026
- First submitted
- 28 Apr 2015
- Last updated
- 22 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
- ClinicalTrials.gov ID
- NCT02432079
- Acronym / sponsor ID
- 1403871897
- Conditions
- Heterotaxy Syndrome, Congenital Heart Defects
- Keywords
- Abnormalities, Multiple, Asplenia, Bilary Atresia, Birth Defect, Cardiovascular Abnormalities, Cardiovascular Diseases, Congenital Abnormalities, Congenital Heart Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Indiana UniversityUniversity, hospital or other
- Study start
- Jul 2009
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 1 May 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Heterotaxy and congenital heart defects | – | –Patients and family members with heterotaxy and related congenital heart defects |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- children affected with heterotaxy syndrome and/or congenital heart defects and their relatives
Key inclusion criteria (2 listed)
- Subjects with heterotaxy and related congenital heart defects
- Family members of subjects with heterotaxy and related congenital heart defects
Key exclusion criteria (2 listed)
- Subjects without heterotaxy and related congenital heart defects
- Family members of subjects without heterotaxy and related congenital heart defects
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Stephanie M. Ware, MD, PhD principal investigator
Indiana University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Heterotaxy Syndrome and Congenital Heart Defects, run by Indiana University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sarah K. Murphy, MPH (317-278-3026, bankssk@iu.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects (time frame: 8 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jun 2026.