ARPKD Database Study (ARPKD)

June 10, 2025 updated by: Children's Hospital of Philadelphia

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

Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), and glomerulocystic Kidney Disease).

The lack of enough routinely available resources for these diseases to be well diagnosed and treated, would be best resolved by coordinated case accrual and sharing of clinical data and bio-specimens (DNA and tissues) among participating institutions, thereby leading to the centralization and sharing of clinical and genetic information, as well as bio-materials, providing an important engine for more rapid research progress and community understanding through the creation of research networks.

This study aims to build a registry of a clinical database (medical health information), a mutational database (genetic information) and an educational resource about HRFD to eventually provide information about these diseases to families, physicians and genetic counselors via our existing HIPAA- approved study website.

Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are:

  1. - Clinical Database:

    • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases.

  2. - Mutational Database:

    • Test children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials.

      3- Tissue Resource:

    • Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato/renal fibrocystic disease affected tissues for studies of these disorders.

      4- Educational Resource:

    • Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato/Renal Diseases families, their physicians, and genetic counselors.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Subject's will have the option of the database, genetic, tissue, and urine section of the study.

This study does not require a clinic visit to our center. We will review past, current, and future medical information related to the database participants. Information that we will collect include: clinic notes, lab results, and physician consult reports. Subjects may be asked to sign a release of medical information form to allow the study team access to their medical records. When the information is received, the research study team will enter medical data into the Hepato-Renal Fibrocystic Diseases (HRFD) clinical database. There will be initial data entry and then annual follow up data entries lasting for the duration of this study or until subjects choose to not participate in the study anymore. We will remove subject's name or any other identifiable health information (such as name, address) from received records before entering medical data into the HRFD clinical database.

If subjects choose to participate in the optional genetic material testing portion of the study, either the referring site may draw the blood sample (~5 mL or a teaspoon) or the research team will send a mailer and a blood collection kit. Samples will be collect from the subject, subject's father, and subject's mother. Once the blood samples are collected, the samples will be sent to Children's Hospital of Philadelphia and each sample will be processed to obtain the DNA. These DNA samples will be labeled only with an identifier that is unique to the subject and stored in the BioRepository at CHOP.

If blood samples are unobtainable from the subject's parents, saliva samples can be collected as an alternative.

In the event of research tissue donation, we will collect tissue (kidney, liver, pancreas, lung, brain, heart, and/or placenta) samples for storage at CHOP Tissue Repository. This tissue repository will be an important source for researchers to access tissue for analysis. Dr. Lisa Guay-Woodford and team will be facilitating the consenting process for collection and storage of tissue as part of her role. For individuals that will be undergoing an autopsy or nephrectomy/hepatectomy, consent will be obtained from the study participants and/or their parents. The Pathology Department at the institution performing the procedures (autopsy or nephrectomy/hepatectomy) will collect tissue according to specified protocol provided by the study coordinator. Upon receipt, the CHOP Repository will process and store the specimens.

Children's Hospital of Philadelphia will serve as a research site to store and process blood specimens, and analyze electronic medical records data via REDcap.

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • District of Columbia
      • Washington, District of Columbia, United States, 20010
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Recruiting
        • Emory
        • Contact:
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Enrolling by invitation
        • Boston Children's
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Enrolling by invitation
        • Cincinnati Children's
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19146
        • Recruiting
        • Children's Hospital of Philadelphia
        • Principal Investigator:
          • Lisa M. Guay-Woodford, MD
        • Contact:
        • Contact:
    • Utah
      • Salt Lake City, Utah, United States, 84108

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

In view of the genetics and demographics of the recessive disorders comprising the spectrum of hepato/renal fibrocystic diseases, we estimate that 50% of the subjects will be female; that 90% of the subjects will be Caucasian and the remainder will belong to the following racial/ethnic categories: 5% African-Americans; 3% Hispanics; 1% Asians; and 1% or less will be other categories.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HRFDCC))
Time Frame: five years

Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource:

The aims of this Core are:

  • Expand our current clinical and mutational database and establish a DNA bank
  • Establish a national tissue repository for hepato/renal fibrocystic diseases
  • Broaden the portfolio of educational tools developed for physicians and patients to encompass the hepato/renal fibrocystic diseases spectrum of disorders.

A unique aspect of this Core is that it builds on established clinical, genotyping, and educational programs and through the P30 mechanism will make these data/resources available to the broader community of interested investigators
five years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital of Philadelphia

Collaborators

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Investigators

  • Principal Investigator: Lisa Guay-Woodford, MD, Children's Hospital of Philadelphia

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2011

Primary Completion (Estimated)

September 1, 2030

Study Completion (Estimated)

December 1, 2030

Study Registration Dates

First Submitted

July 22, 2011

First Submitted That Met QC Criteria

July 22, 2011

First Posted (Estimated)

July 26, 2011

Study Record Updates

Last Update Posted (Actual)

June 13, 2025

Last Update Submitted That Met QC Criteria

June 10, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 19-016284
  • 2P30DK074038-06 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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