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

NCT ID NCT01401998

Recruiting now Knowledge-focused Sponsor: Children's Hospital of Philadelphia Source: ClinicalTrials.gov ↗

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.

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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

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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