Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Status Completed

Clinical Trial Summary

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

Clinical Trial 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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02340689
Study type	Observational
Source	Mayo Clinic
Contact
Status	Completed
Phase
Start date	October 2013
Completion date	December 2018

View Details

See also
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