Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))

Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY

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/.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: No
View:

• Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.

Locations
United States
Washington, D.c.
Children's National Health System
Recruiting
Washington
Contact Information
Primary
Jasmine Jaber
jjaber@childrensnational.org
202-476-2922
Backup
Lisa M Guay-Woodford, MD
LGuaywoo@childrensnational.org
202-476-6439
Time Frame
Start Date: June 2011
Estimated Completion Date: December 2022
Participants
Target number of participants: 200
Sponsors
Leads: Lisa M. Guay-Woodford
Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

This content was sourced from clinicaltrials.gov

Similar Clinical Trials

We couldn't find any related articles check for more on the main search page.