Resource for Hepato/Renal Fibrocystic Diseases
Official title: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)
Run by Children's Hospital of Philadelphia · NCT01401998 · Data updated 2026-11-12
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 type | Observational |
|---|---|
| Ages | Any age to 18 Years |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Children's Hospital of Philadelphia Academic / other |
| Locations | 6 sites (Washington D.C., District of Columbia and 5 other locations) |
| Status | Recruiting |
| Started | June 2011 |
| Main results expected | September 2030 |
| Study ends | December 2030 |
| Registry record updated | June 15, 2026 |
| Trial ID | NCT01401998 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with hepato/renal fibrocystic diseases, confirmed through clinical evaluations or genetic testing.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other studies focusing on similar genetic and cystic kidney diseases have shown promise, indicating that this approach may yield valuable insights.
Who can join: the full rules
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 it's running
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Children's National Hospital
Washington D.C., District of Columbia, United States Recruiting -
Emory
Atlanta, Georgia, United States Recruiting -
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States Recruiting -
University of Utah
Salt Lake City, Utah, United States Recruiting -
Boston Children's
Boston, Massachusetts, United States Enrolling by invitation -
Cincinnati Children's
Cincinnati, Ohio, United States Enrolling by invitation
Study contacts
- Principal investigator: Lisa Guay-Woodford, MD — Children's Hospital of Philadelphia
- Study coordinator: Jasmine Jaber
- Email: jaberj2@chop.edu
- Phone: 267-425-5325
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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National Registry for Rare Kidney Diseases
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Imaging to track ARPKD kidney disease progression
This project will test whether quick, quantitative non-contrast MRI scans can reliably track kidney disease progression in people aged 6 and older with ARPKD compared with healthy controls.
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This study is trying to find new treatment options for nephronophthisis and related kidney diseases by testing if existing drugs can fix problems in cells affected by this genetic condition.
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Observing the health management of patients with rare genetic syndromes
This study looks at how patients with rare genetic syndromes like Prader-Willi and Klinefelter manage their health as they move from children's care to adult care to see what support they need.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.