Clinical Trial: Primary Hyperoxaluria Mutation Genotyping

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria

Brief Summary: This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.

Detailed Summary: 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.
Sponsor: Mayo Clinic

Current Primary Outcome: To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria [ Time Frame: 2 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Mayo Clinic

Dates:
Date Received: December 28, 2007
Date Started: December 2003
Date Completion:
Last Updated: July 5, 2016
Last Verified: July 2016