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

This study is currently recruiting participants.
See Contacts and Locations
Verified September 2017 by Lisa M. Guay-Woodford, Children's Research Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
Lisa M. Guay-Woodford, Children's Research Institute Identifier:
First received: July 22, 2011
Last updated: September 15, 2017
Last verified: September 2017

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:

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

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))

Resource links provided by NLM:

Further study details as provided by Lisa M. Guay-Woodford, Children's Research Institute:

Primary Outcome Measures:
  • 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

Biospecimen Retention:   Samples With DNA
Blood-derived DNA and lymphocytes for EBV-immortalized cell lines. Remnant tissue samples affected with Hepato/Renal Fibrocystic Diseases

Estimated Enrollment: 200
Study Start Date: June 2011
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: September 2018 (Final data collection date for primary outcome measure)
  Show Detailed Description


Ages Eligible for Study:   up to 35 Years   (Child, Adult)
Sexes Eligible for Study:   All
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.

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01401998

Contact: Elena Gibson, RN (GER) 202-476-2922
Contact: Lisa M Guay-Woodford, MD 202-476-6439

United States, District of Columbia
Children's National Health System Recruiting
Washington, D.C., District of Columbia, United States, 20010
Contact: Elena Gibson, RN (GER)    202-476-2197   
Contact: Lisa M. Guay-Woodford, MD    202-476-6439   
Principal Investigator: Lisa M. Guay-Woodford, MD         
Sponsors and Collaborators
Lisa M. Guay-Woodford
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Lisa Guay-Woodford, MD Children's National Health System
  More Information

Additional Information:
Responsible Party: Lisa M. Guay-Woodford, Principal Investigator, MD, Children's Research Institute Identifier: NCT01401998     History of Changes
Obsolete Identifiers: NCT00575705
Other Study ID Numbers: F110414002
2P30DK074038-06 ( U.S. NIH Grant/Contract )
Study First Received: July 22, 2011
Last Updated: September 15, 2017

Keywords provided by Lisa M. Guay-Woodford, Children's Research Institute:
cystic kidney disease
polycystic kidney disease
congenital hepatic fibrosis
genetic disease

Additional relevant MeSH terms:
Kidney Diseases, Cystic
Kidney Diseases
Polycystic Kidney Diseases
Bardet-Biedl Syndrome
Cystic Fibrosis
Fibrocystic Breast Disease
Polycystic Kidney, Autosomal Recessive
Liver Cirrhosis
Genetic Diseases, Inborn
Caroli Disease
Orofaciodigital Syndromes
Pathologic Processes
Urologic Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Infant, Newborn, Diseases
Breast Diseases
Skin Diseases
Liver Diseases processed this record on September 21, 2017