UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
|First Received Date ICMJE||July 22, 2011|
|Last Updated Date||June 22, 2012|
|Start Date ICMJE||June 2011|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT01401998 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource|
|Official Title ICMJE||Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))|
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:
All the information regarding participation in "Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource" is available at: http://www.arpkdstudies.uab.edu/.
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 http://www.arpkdstudies.uab.edu/.
The Informed Consent for the Clinical Database and Information for the participant 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) 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 via UAB Medical Genomics Laboratory (CLIA and CAP approved) as a fee-for-service. In special cases (eg. presenting at an older age, mainly with liver or pancreatic disease) contact Dr. Guay-Woodford at email@example.com.
Once receipt of the requisite items is confirmed, the following actions will proceed:
|Study Type ICMJE||Observational|
|Study Design ICMJE||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|
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.
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
|Publications *||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||200|
|Estimated Completion Date||September 2015|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
|Ages||up to 35 Years|
|Accepts Healthy Volunteers||No|
|Contacts ICMJE||Not Provided|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT01401998|
|Other Study ID Numbers ICMJE||F110414002, 2P30DK074038-06|
|Has Data Monitoring Committee||Yes|
|Responsible Party||Dr. Lisa Guay-Woodford, University of Alabama at Birmingham|
|Study Sponsor ICMJE||University of Alabama at Birmingham|
|Collaborators ICMJE||National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)|
|Investigators ICMJE||Not Provided|
|Information Provided By||University of Alabama at Birmingham|
|Verification Date||June 2012|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP