Filter Results
Clinical Studies
Results filtered:Study status:
Open
Closed for Enrollment
Open
-
Cystic Kidney and Liver Disease Biobank (CKLDB) - (Mayo Translational PKD Center: Molecular Genetics and Proteomics Core) (MTPC Biobank)
Rochester, Minn.
This research study is being done to create a collection of biospecimens (blood, urine, cyst fluid, bile, kidney or liver tissue, etc.) that can be used to facilitate the conduction of research on polycystic kidney and/or liver disease.
-
Cystic Kidney Disease: Disease Spectrum and Genotype-Phenotype Correlations
Rochester, Minn.
The overall objective of this study is to define genes causing cystic kidney disease and to determine the degree to which variants at these cystic kidney disease genes underlie the clinical diversity of these disorders. This will provide an insight into the disease mechanisms, and explore novel mutation screening methods. A combination of mutation screening in clinically characterized human cystic kidney disease populations, gene hunting and exploration of incompletely penetrant alleles in humans will provide a comprehensive picture of how mutations cause the resulting phenotype.
.