Resource for Hepato/Renal Fibrocystic Diseases

Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)

Observational Children's Hospital of Philadelphia · NCT01401998

This study is trying to collect detailed health and genetic information from people with hepato/renal fibrocystic diseases to improve understanding and treatment options for these conditions.

Quick facts

Study typeObservational
Enrollment200 (estimated)
AgesN/A to 18 Years
SexAll
SponsorChildren's Hospital of Philadelphia Academic / other
Locations6 sites (Washington D.C., District of Columbia and 5 other locations)
Trial IDNCT01401998 on ClinicalTrials.gov

What this trial studies

This project aims to expand a clinical database that captures comprehensive clinical and genetic data for patients with hepato/renal fibrocystic diseases, including conditions like Autosomal Recessive Polycystic Kidney Disease and Joubert Syndrome. The study involves recruiting patients through referrals and direct contact, with a focus on gathering information that can enhance understanding and treatment of these diseases. Participants will be approached by study coordinators to explain the study and facilitate enrollment. The initiative is supported by the National Institute of Diabetes and Digestive and Kidney Diseases.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with hepato/renal fibrocystic diseases, confirmed through clinical evaluations or genetic testing.

Not a fit: Patients with Autosomal Dominant Polycystic Kidney Disease or significant congenital anomalies unrelated to the study focus may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of hepato/renal fibrocystic diseases, ultimately benefiting patients through better-targeted therapies.

How similar studies have performed: Other studies focusing on similar genetic and cystic kidney diseases have shown promise, indicating that this approach may yield valuable insights.

Eligibility criteria

Show full inclusion / exclusion criteria
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

Where this trial is running

Washington D.C., District of Columbia and 5 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Hepato/Renal Fibrocystic DiseaseAutosomal Recessive Polycystic Kidney DiseaseJoubert SyndromeBardet Biedl SyndromeMeckel-Gruber SyndromeCongenital Hepatic FibrosisCaroli SyndromeOro-Facial-Digital Syndrome Type I
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.