Primary Hyperoxaluria Mutation Genotyping

Status Completed

Clinical Trial Summary

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

Clinical Trial 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. ;

Study Design

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00589225
Study type	Observational
Source	Mayo Clinic
Contact
Status	Completed
Phase	Phase 1
Start date	December 2003
Completion date	September 2014

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See also
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