Clinical Trial: UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))

Brief Summary:

In 2005, The University of Alabama at Birmingham established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. In the previous Core Center award period, we developed a Core Resource to capture clinical and mutational data for ARPKD patients ("Core A: ARPKD Clinical and Genetic Resource", NCT00575705). However, studies in the last several years have demonstrated that ARPKD and other single gene disorders characterized by renal cystic disease and extra-renal phenotypes share numerous pathogenic features. In the current competitively- renewed Center, we have expanded this Core resource to include other hepato/renal fibrocystic diseases.

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

      Detailed Summary:

      The entry portal for Core A is designed so that physicians who contact the CLIA-certified UAB Medical Genomics Laboratory (MGL) requesting information about PKHD1 testing and any patient/parent/legally authorized representative looking for information online about any of the hepato-renal diseases included in this study will be directed to the UAB Hepato/Renal Fibrocystic Disease Translational Resource website http://www.arpkdstudies.uab.edu/.

      The Informed Consent for the Clinical Database and Information for the participant will be posted on the website (http://www.arpkdstudies.uab.edu/) for review by potential participants and follow-up discussions with the PI and/or Research Nurse Coordinator. In addition, materials in paper format can be sent to interested potential participants upon request.

      Two key elements will be required for patient enrollment: 1) certification that informed consent has been obtained, and 2) participant and physician contact information form completed by the participant.

      The UAB release of information form, information for the physician and instructions on how to enter data will be posted in the website available to the physician.

      This study does not provide free genetic testing. Clinical genetic testing is available via UAB Medical Genomics Laboratory (CLIA and CAP approved) as a fee-for-service. In special cases (eg. presenting at an older age, mainly with liver or pancreatic disease) contact Dr. Guay-Woodford at [email protected].

      Once receipt of the requisite items is confirmed, the following actions will proceed:

      1. Each participant will be assigned a unique code identifier
        Sponsor: Lisa M. Guay-Woodford

        Current Primary Outcome: 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



        Original Primary Outcome:

        Current Secondary Outcome:

        Original Secondary Outcome:

        Information By: Children's Research Institute

        Dates:
        Date Received: July 22, 2011
        Date Started: June 2011
        Date Completion: December 2017
        Last Updated: August 23, 2016
        Last Verified: August 2016