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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 : February 21, 2021
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
Lisa M. Guay-Woodford, Children's National Research Institute

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:

Condition or disease
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

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Study Type : Observational
Estimated Enrollment : 200 participants
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))
Study Start Date : June 2011
Estimated Primary Completion Date : September 2022
Estimated Study Completion Date : December 2022

Primary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01401998

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

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United States, District of Columbia
Children's National Health System Recruiting
Washington, 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)
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Principal Investigator: Lisa Guay-Woodford, MD Children's National Health System
Additional Information:
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Responsible Party: Lisa M. Guay-Woodford, Principal Investigator, MD, Children's National Research Institute Identifier: NCT01401998    
Obsolete Identifiers: NCT00575705
Other Study ID Numbers: F110414002
2P30DK074038-06 ( U.S. NIH Grant/Contract )
First Posted: July 26, 2011    Key Record Dates
Last Update Posted: February 21, 2021
Last Verified: February 2021
Keywords provided by Lisa M. Guay-Woodford, Children's National Research Institute:
cystic kidney disease
polycystic kidney disease
congenital hepatic fibrosis
genetic disease
Additional relevant MeSH terms:
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Orofaciodigital Syndromes
Cystic Fibrosis
Caroli Disease
Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Recessive
Fibrocystic Breast Disease
Pathologic Processes
Urologic Diseases
Kidney Diseases, Cystic
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Digestive System Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Retinitis Pigmentosa
Eye Diseases, Hereditary
Eye Diseases
Pancreatic Diseases
Lung Diseases
Respiratory Tract Diseases