Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria. This study is a more complete DNA test than the routine clinical test.
|Study Design:||Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Screening
|Official Title:||Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria|
- To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria [ Time Frame: 2 years ] [ Designated as safety issue: No ]
|Study Start Date:||December 2003|
|Estimated Study Completion Date:||December 2020|
|Estimated Primary Completion Date:||December 2020 (Final data collection date for primary outcome measure)|
Genetic: Genetic Analysis
We will draw one tube 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.
During your study visit, we 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 Primary Hyperoxaluria by comparing it with the structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hour urine test may also be collected.
|Contact: Barbara Seideemail@example.com|
|Contact: Mayo Clinic Hyperoxaluria Centerfirstname.lastname@example.org|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Contact: Barbara Seide 507-255-0387 email@example.com|
|Principal Investigator: Dawn Milliner, MD|
|Principal Investigator:||Dawn Milliner, MD||Mayo Clinic|