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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01401998
Recruitment Status : Recruiting
First Posted : July 26, 2011
Last Update Posted : September 20, 2018
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
Lisa M. Guay-Woodford, Children's Research Institute

Tracking Information
First Submitted Date July 22, 2011
First Posted Date July 26, 2011
Last Update Posted Date September 20, 2018
Study Start Date June 2011
Estimated Primary Completion Date September 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 30, 2013)
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 Measures Not Provided
Change History Complete list of historical versions of study NCT01401998 on Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
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 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.

All the information regarding participation in "Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource" is available at:

Detailed Description

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

The Informed Consent for the Clinical Database and Information for the participant will be posted on the website ( 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 as a fee-for-service.The following genetic testing may be offered to participants: exome sequencing, whole-genome sequencing, whole-genome mapping (e.g. Bionano technology). We will look for single nucleotide variants (SNVs), small deletions and insertions (INDELs) as well as large Structural Variants (SVs, deletions, insertions, translocations, inversions). In special cases (eg. presenting at an older age, mainly with liver or pancreatic disease) contact Dr. Guay-Woodford at

High-molecular weight DNA extraction will be performed at CNMC, according to published protocols allowing to perform Sanger sequencing, massively parallel/next-generation sequencing (exome or whole genome sequencing) and/or whole-genome mapping.

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

  1. Each participant will be assigned a unique code identifier in the database and a clinician-specific web field will be opened for the participant identifier.
  2. The participant/parents will confirm the name of their clinician to the database and notify their physician and/or genetic counselor (clinicians) of their intent to participate in this study.
  3. The clinician will access the Physician Link on the website and follow the instructions about how to post data to the website. Once this is done, the name of the patient will be deleted from the online database and only the unique identifier will be used. Each clinician permitted to access this website will be tracked with a login procedure that includes a process to verify who is entering the system. Clinical data will be provided by the participant's physician through the web-based entry system, coded with a unique identifier, and entered into the secure Clinical Database as an initial visit data (F01 or primary data form) and annual follow up (F11 or follow up form). Data entry will last the duration of this study. No names or initials will be collected on these data forms, but gender and date of birth (which will be converted to age and only the month and year will be kept on file) will be requested. The physician will not receive a monetary incentive for entering data.
  4. Blood samples for diagnostic testing (with signed clinical genetic testing consent) will be sent to the UAB MGL. The UAB MGL will perform standardized fee for service testing for PKHD1 mutations. The clinical result will be reported to the patient's physician/genetic counselor. As needed, genetic counseling services can be made available through the UAB Department of Genetics (fee for service).
  5. Blood samples for research purposes will come directly to the research lab from patients/families signing the study consent and agreeing to have DNA extraction/EBV transformation/or both. Adult and children participants need two tsp of blood and infants need one tsp of blood.
  6. This study does not provide free genetic testing. Clinical genetic testing is available as a fee-for-service. The result of the genetic testing will be entered into the Mutational Database if the participant or their representative provides consent to participate in the Database.
  7. Our center can be notified directly by a local physician authorized by the patient or the patient can contact our center directly to donate hepato/renal fibrocystic disease tissue. The research coordinator will contact the possible participant/parent/legally authorized representative to discuss the study and their willingness to participate in this research. If the study consents are signed, the research coordinator will call the center/pathologist, sending the sample and provide them with instructions on how to prepare and ship sample. On arrival to Dr. Guay-Woodford's lab, the sample will be de-identified and coded with the participant's unique identifier and transported to the UAB Tissue Collection and Banking Facility.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Blood-derived DNA and lymphocytes for EBV-immortalized cell lines. Remnant tissue samples affected with Hepato/Renal Fibrocystic Diseases
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.
  • Hepato/Renal Fibrocystic Disease
  • Autosomal Recessive Polycystic Kidney Disease
  • Joubert Syndrome
  • Bardet Biedl Syndrome
  • Meckel-Gruber Syndrome
  • Congenital Hepatic Fibrosis
  • Caroli Syndrome
  • Oro-Facial-Digital Syndrome Type I
  • Nephronophthisis
  • Glomerulocystic Kidney Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 22, 2011)
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2020
Estimated Primary Completion Date September 2020   (Final data collection date for primary outcome measure)
Eligibility 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
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contact: Elena Gibson, RN (GER) 202-476-2922
Contact: Lisa M Guay-Woodford, MD 202-476-6439
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01401998
Other Study ID Numbers F110414002
2P30DK074038-06 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Lisa M. Guay-Woodford, Children's Research Institute
Study Sponsor Lisa M. Guay-Woodford
Collaborators National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Lisa Guay-Woodford, MD Children's National Health System
PRS Account Children's Research Institute
Verification Date September 2018