NCT02340689

Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 1,235 (actual)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: 1 Day
• Healthy volunteers: Not accepted

Summary

Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.

Detailed description

During your study visit, we will draw one tube, about two teaspoons (1 to 1 ½ teaspoons for children), of blood from your arm. White blood cells from the sample will be used as a source of DNA for genetic testing. We will use the DNA to try to identify mutations (changes) in one of the genes that can cause primary hyperoxaluria. This will be done by comparing it with the structure of these genes in normal individuals, patients with primary hyperoxaluria, and family members of primary hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hr urine test may also be collected.

Conditions

• Primary Hyperoxaluria

Interventions

Type	Name	Description
OTHER	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 analysis.

Timeline

• Start date: 2013-10-01
• Primary completion: 2018-12-01
• Completion: 2018-12-01
• First posted: 2015-01-19
• Last updated: 2019-08-19

Locations

1 site across 1 country: United States