UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
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|ClinicalTrials.gov Identifier: NCT01401998|
Recruitment Status : Recruiting
First Posted : July 26, 2011
Last Update Posted : October 25, 2019
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/.
|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|
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|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|
- 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
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 ClinicalTrials.gov identifier (NCT number): NCT01401998
|Contact: Elena Gibson, RN (GER)||email@example.com|
|Contact: Lisa M Guay-Woodford, MD||202-476-6439||LGuaywoo@childrensnational.org|
|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 firstname.lastname@example.org|
|Contact: Lisa M. Guay-Woodford, MD 202-476-6439 email@example.com|
|Principal Investigator: Lisa M. Guay-Woodford, MD|
|Principal Investigator:||Lisa Guay-Woodford, MD||Children's National Health System|