NCT00589225

Primary Hyperoxaluria Mutation Genotyping

Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 902 (actual)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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 description

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.

Conditions

• Primary Hyperoxaluria

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2003-12-01
• Primary completion: 2014-09-01
• Completion: 2014-09-01
• First posted: 2008-01-09
• Last updated: 2016-07-07

Locations

1 site across 1 country: United States