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

NCT ID NCT01401998

First seen Jun 16, 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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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Boston Children's

    ENROLLING_BY_INVITATION

    Boston, Massachusetts, 02115, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19146, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • Children's National Hospital

    RECRUITING

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

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Cincinnati Children's

    ENROLLING_BY_INVITATION

    Cincinnati, Ohio, 45229, United States

  • Emory

    RECRUITING

    Atlanta, Georgia, 30322, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84108, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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.