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DNA hunt for heart defect clues: 2,000 families sought

NCT ID NCT02432079

Knowledge-focused Sponsor: Indiana University Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to collect DNA samples and medical information from 2,000 people with heterotaxy (a condition where organs are arranged abnormally) and related heart defects, along with their family members. Researchers hope to identify the genetic causes of these conditions, which could improve genetic counseling and our understanding of how the body develops left-right asymmetry. Participants provide samples and data but receive no direct treatment.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could lead to better genetic testing and counseling for families affected by heterotaxy and related heart defects.
What could go wrong
This is an observational study, not a treatment trial. It may take years to yield actionable results, and findings may not apply to all cases.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 2,000 people

The number the study aims to enrol. It can still change while the study runs.

Start date

Jul 2009

Expected to finish

Dec 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

Abnormalities, Multiple Cardiovascular Abnormalities cardiovascular disorder Congenital Abnormalities congenital heart disease dextrocardia heart disorder Heterotaxy Syndrome situs inversus splenic disorder visceral heterotaxy volvulus of midgut

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Congenital heart defects Heterotaxy syndrome

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Indiana University School of Medicine

    RECRUITING

    Indianapolis, Indiana, 46202, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.