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UAB Recessive PKD Research and Translational Core Center (UAB RPKDCC)

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified March 2011 by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Recruitment status was:  Active, not recruiting
Information provided by:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Identifier:
First received: December 13, 2007
Last updated: March 15, 2011
Last verified: March 2011

The University of Alabama at Birmingham Recessive Polycystic Kidney Disease Core Center (UAB RPKDCC) has established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. Among the five Cores, the UAB RPKDCC includes the ARPKD Clinical and Genetic Resource, a Core resource designed to develop a unique set of clinical, genetic, and educational resources for ARPKD. The Core has three primary objectives:

  1. To extend the observational study of ARPKD initiated by the North American ARPKD Database.
  2. To provide a mechanism for genetic evaluation of patients with both classic ARPKD and unusual phenotypes of recessive PKD.
  3. To develop educational tools for physicians and patients regarding the natural history, cause, development and effects of the disease, genetic testing, and clinical trials applicable to ARPKD.

Autosomal Recessive Polycystic Kidney Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: The ARPKD Clinical and Genetic Resource (UAB Recessive PKD Research and Translational Core Center)

Resource links provided by NLM:

Further study details as provided by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK):

Biospecimen Retention:   Samples With DNA
Blood-derived DNA and lymphocytes for EBV-immortalized cell lines.

Estimated Enrollment: 200
Study Start Date: November 2005
Estimated Study Completion Date: November 2010
Detailed Description:

The Study protocol and the Informed Consent for the Clinical Database 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) certification that permission for release of selected health information has also been obtained, including the date of signature. Once receipt of these items is confirmed, the following actions will proceed:

  1. the participant will be assigned a unique identifier in the database and a clinician-specific web field will be opened for that 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, type in the patient name and the referring center, and if matched to the patient's report, will receive the unique identifier for that patient. 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.
  4. This unique identifier will allow the clinician to open the clinical database entry form and provide the information requested in each field. No names or initials will be collected in this data form, 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.

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 ARPKD in North America, 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:

  • Histopathology compatible with ARPKD based on renal biopsy or necropsy; or
  • Sonographic evidence of diffusely enlarged, echogenic kidneys and at least one additional criteria:

    1. patho-anatomical diagnosis in an affected sibling, or
    2. absence of renal cysts in the ultrasound examination of both parents (studies would have been obtained as part of the evaluation of the affected child; parents must be > 30 yo), or
    3. hepatic fibrosis based on either clinical or histopathologic evidence, or
    4. parental consanguinity

Exclusion Criteria:

  • 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: NCT00575705

United States, Alabama
University of Alabama at Birmingham
Birmingham, Alabama, United States, 35294
Sponsors and Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Lisa M. Guay-Woodford, MD University of Alabama at Birmingham
  More Information

Additional Information:
Responsible Party: Lisa M. Guay-Woodford, University of Alabama at Birmingham Identifier: NCT00575705     History of Changes
Other Study ID Numbers: P30DK074038 ( U.S. NIH Grant/Contract )
Study First Received: December 13, 2007
Last Updated: March 15, 2011

Keywords provided by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK):
cystic kidney disease
polycystic kidney disease
congenital hepatic fibrosis
genetic disease

Additional relevant MeSH terms:
Kidney Diseases
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Recessive
Urologic Diseases
Kidney Diseases, Cystic
Genetic Diseases, Inborn processed this record on August 17, 2017