UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
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:
- Clinical Database:
• Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases.
- 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: http://www.arpkdstudies.uab.edu/.
|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 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))|
- 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
|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)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01401998
|Contact: Elena Gibson, RN (GER)||firstname.lastname@example.org|
|Contact: Lisa M Guay-Woodford, MD||202-476-6439||LGuaywoo@childrensnational.org|
|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 email@example.com|
|Contact: Lisa M. Guay-Woodford, MD 202-476-6439 firstname.lastname@example.org|
|Principal Investigator: Lisa M. Guay-Woodford, MD|
|Principal Investigator:||Lisa Guay-Woodford, MD||Children's National Health System|