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New registry aims to unlock secrets of rare Kidney-Liver diseases

NCT ID NCT01401998

Knowledge-focused Sponsor: Children's Hospital of Philadelphia 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better understand, diagnose, and treat these conditions. The goal is to share this information with families and healthcare providers to speed up research and improve care.

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 200 people

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

Start date

Jun 2011

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

In view of the genetics and demographics of the recessive disorders comprising the spectrum of hepato/renal fibrocystic diseases, we estimate that 50% of the subjects will be female; that 90% of the subjects will be Caucasian and the remainder will belong to the following racial/ethnic categories: 5% African-Americans; 3% Hispanics; 1% Asians; and 1% or less will be other categories.

Ages

Up to 18 years

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: * Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing. Exclusion Criteria: * ADPKD Urinary tract malformations Major congenital anomalies of other systems

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Conditions

The condition(s) this trial relates to.

Agenesis of Cerebellar Vermis autosomal recessive polycystic kidney disease Bardet-Biedl syndrome Caroli disease Caroli syndrome cystic kidney disease hereditary disease isolated congenital hepatic fibrosis Joubert syndrome Meckel syndrome, type 1 nephronophthisis nephronophthisis 1 orofaciodigital syndrome I polycystic kidney disease Polycystic Kidney, Autosomal Recessive

As listed by the trial registrant

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

Autosomal recessive polycystic kidney disease Bardet Biedl syndrome Caroli syndrome Congenital hepatic fibrosis Glomerulocystic kidney disease Hepato/renal fibrocystic disease Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Oro-facial-digital syndrome type I

How to take part

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

  1. The places running it

    6 sites. 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

  • Boston Children's

    ENROLLING_BY_INVITATION

    Boston, Massachusetts, 02115, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19146, United States

  • Children's National Hospital

    RECRUITING

    Washington D.C., District of Columbia, 20010, United States

  • Cincinnati Children's

    ENROLLING_BY_INVITATION

    Cincinnati, Ohio, 45229, United States

  • Emory

    RECRUITING

    Atlanta, Georgia, 30322, United States

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84108, United States

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