Actively Recruiting
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)
Led by Children's Hospital of Philadelphia · Updated on 2025-06-13
200
Participants Needed
6
Research Sites
13 weeks
Total Duration
On this page
Sponsors
C
Children's Hospital of Philadelphia
Lead Sponsor
N
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are building a comprehensive registry for Hepato-Renal Fibrocystic Diseases (HRFD), which include rare conditions like Autosomal Recessive Polycystic Kidney Disease (ARPKD) and related disorders such as Joubert syndrome and congenital hepatic fibrosis. The goal is to gather clinical and genetic information and create educational resources to help families, doctors, and genetic counselors better understand these diseases. This observational study is designed to support research progress and community awareness through a shared database and biospecimen resources. Participants may choose to contribute to various parts of the study, including a clinical database, genetic testing, tissue donation, and educational resources. Medical records will be reviewed, with data entered into a secure database after removing personal identifiers. Blood or saliva samples may be collected from patients and their parents for genetic analysis, with samples stored at a specialized biorepository. Tissue samples from procedures like nephrectomy or autopsy may also be collected and stored for research. Participants will provide access to their medical information without needing to visit the study center. Data collection includes past, current, and future medical records, with annual updates for ongoing participation. Genetic and tissue samples will be stored and used to support research. The study team monitors the development of this resource over five years to enhance knowledge and treatment options for HRFD. Participation duration varies depending on continued involvement and consent.
CONDITIONS
Brief Title
ARPKD Database Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of hepato/renal fibrocystic disease confirmed by clinical information, imaging studies, biopsy, autopsy, or genetic testing
You will not qualify if you...
- Autosomal dominant polycystic kidney disease (ADPKD)
- Urinary tract malformations
- Major congenital anomalies of other organ systems
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 8 years or until participants choose to withdraw
Participants who choose to join the study provide access to their past, current, and future medical information for review and entry into the research database. This includes clinic notes, lab results, and physician reports.
Duration - One-time or as needed
Optional collection of genetic material including blood or saliva samples from participants and their parents for DNA analysis and storage at the Biorepository.
1 to 3 sample collections depending on family participation
Duration - Occurs during relevant medical procedures, as available
Optional donation of tissue samples during medical procedures such as autopsy or nephrectomy/hepatectomy for storage and future research use.
1 visit coordinated with medical procedure
Trial Site Locations
Total: 6 locations
1
Children's National Hospital
Washington D.C., District of Columbia, United States, 20010
Actively Recruiting
2
Emory
Atlanta, Georgia, United States, 30322
Actively Recruiting
3
Boston Children's
Boston, Massachusetts, United States, 02115
Enrolling by Invitation
4
Cincinnati Children's
Cincinnati, Ohio, United States, 45229
Enrolling by Invitation
5
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19146
Actively Recruiting
6
University of Utah
Salt Lake City, Utah, United States, 84108
Actively Recruiting
Research Team
J
Jasmine Jaber
L
Lisa M Guay-Woodford, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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