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DNA collection study aims to unlock secrets of rare liver diseases

NCT ID NCT05272319

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Jul 15, 2026 · Updated 3 times

Summary

This completed study collected blood or saliva samples from 213 people with rare liver diseases to extract and store their DNA. The goal was to create a genetic resource that scientists can use in future studies to explore the causes, biomarkers, and genetic factors of these conditions. Participants were children and adults previously enrolled in other liver disease research studies.

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 DNA repository could help researchers better understand the genetic causes of rare liver diseases and identify new biomarkers or treatment targets.
What could go wrong
This is a sample collection study, not a treatment trial. It does not test any therapy, and the DNA resource may or may not lead to future medical advances.

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

171 people

The number who actually took part.

Started

Apr 2022

Finished

May 2026

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

The eligible study population are those child participants who signed consent to participate in a prior research study that collects DNA biospecimens and for whom the specimen was never obtained. If those participants are still followed by the site.

Ages

24 hours to 25 years

Sex

Anyone

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: * For Child Participants 1. Previous enrollment in PROBE or BASIC 2. Exited from one of the aforementioned studies. 3. Consent for DNA sample collection obtained during enrollment during enrollment to one of the aforementioned studies but sample not previously collected. 4. Still followed at the clinical site. Exclusion Criteria: <!-- --> 1. Participant is deceased 2. Participant exited from prior study due to violating eligibility criteria 3. Participant cannot be contacted

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Locations

  • Children's Healthcare of Atlanta

    Atlanta, Georgia, 30322, United States

  • Children's Hospital Colorado

    Aurora, Colorado, 80045, United States

  • Children's Hospital of Los Angeles

    Los Angeles, California, 90027, United States

  • Cincinnati Children's Hospital

    Cincinnati, Ohio, 45229, United States

  • Lurie Children's Hospital

    Chicago, Illinois, 60611, United States

  • Riley Hospital for Children

    Indianapolis, Indiana, 46202, United States

  • Seattle Children's Hospital

    Seattle, Washington, 98105, United States

  • Texas Children's Hospital; Baylor College of Medicine

    Houston, Texas, 77030, United States

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • The Hospital for Sick Children

    Toronto, Ontario, M5G 1XG, Canada

  • UCSF Benioff Children's Hospital

    San Francisco, California, 94143, United States

  • UPMC Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania, 15224, United States

  • University of Utah

    Salt Lake City, Utah, 84113, United States

More trials for these conditions

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