UAB Recessive PKD Research and Translational Core Center - Full Text View

Sponsored by:	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by:	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
ClinicalTrials.gov Identifier:	NCT00575705

Purpose

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:

To extend the observational study of ARPKD initiated by the North American ARPKD Database.
To provide a mechanism for genetic evaluation of patients with both classic ARPKD and unusual phenotypes of recessive PKD.
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.

Condition
Autosomal Recessive Polycystic Kidney Disease

Genetics Home Reference related topics: polycystic kidney disease

U.S. FDA Resources

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

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

Biospecimen Retention: Samples With DNA

Biospecimen Description:

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 (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) 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:

the participant will be assigned a unique identifier in the database and a clinician-specific web field will be opened for that identifier.
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.
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.
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.

Eligibility

Ages Eligible for Study:	up to 35 Years
Genders Eligible for Study:	Both
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.

Criteria

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:

ADPKD
Urinary tract malformations
Major congenital anomalies of other systems

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00575705

Contacts

Contact: Lisa M. Guay-Woodford, MD	205-934-7308	lgw@uab.edu
Contact: Teresa Chacana, BSN	205-934-7649	tchacana@uab.edu

Locations

United States, Alabama
University of Alabama at Birmingham	Recruiting
Birmingham, Alabama, United States, 35294
Contact: Teresa J Chacana, RN 205-934-7649 tchacana@uab.edu
Sub-Investigator: Ludwine Messiaen, PhD

Sponsors and Collaborators

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Investigators

Principal Investigator:

Lisa M. Guay-Woodford, MD

University of Alabama at Birmingham

More Information

Additional Information:

ARPKD Clinical and Genetic Resource (Core A of the UAB RPKDCC) This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party:	University of Alabama at Birmingham ( Lisa M. Guay-Woodford )
Study ID Numbers:	DK074038, P30-DK074038
Study First Received:	December 13, 2007
Last Updated:	January 5, 2009
ClinicalTrials.gov Identifier:	NCT00575705 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK):

cystic kidney disease
polycystic kidney disease
congenital hepatic fibrosis
genetic disease

Study placed in the following topic categories:

Polycystic Kidney, Autosomal Recessive
Hepatic Fibrosis
Urologic Diseases
Fibrosis

Kidney Diseases, Cystic
Polycystic Kidney Diseases
Congenital Hepatic Fibrosis
Kidney Diseases

Additional relevant MeSH terms:

Polycystic Kidney, Autosomal Recessive
Urologic Diseases
Kidney Diseases, Cystic
Polycystic Kidney Diseases
Kidney Diseases

ClinicalTrials.gov processed this record on May 07, 2009