Dent Disease Mutation Genotyping
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
|Study Design:||Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Screening
|Official Title:||Screening for Dent Disease Mutations in Patients With Proteinuria|
- To determine which genetic mutations are the cause of a more severe disease, in Dent Disease. [ Time Frame: 4 years ] [ Designated as safety issue: No ]
|Study Start Date:||August 2012|
|Study Completion Date:||September 2015|
|Primary Completion Date:||September 2015 (Final data collection date for primary outcome measure)|
During this study visit, the investigator will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to identify the gene that is defective in Dent Disease by comparing it with the structure of genes in normal individuals, patients with Dent Disease, and family members for Dent Disease.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01783795
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Principal Investigator:||John C. Lieske, MD||Mayo Clinic|