Primary Hyperoxaluria Mutation Genotyping

Completed

• Conditions: Primary Hyperoxaluria

• Registration Number: NCT00589225
• Lead Sponsor: Mayo Clinic

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 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 Timeline

• Study Start: 2003-12
• Study First Submitted: 2007-12-28
• Study First Submitted QC: 2007-12-28
• Study First Posted: 2008-01-09
• Primary Completion: 2014-09
• Study Completion: 2014-09
• Status Verified: 2016-07
• Last Update Submitted: 2016-07-05
• Last Update Posted: 2016-07-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 902

Inclusion Criteria

• You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
• You have a family member diagnosed with Primary Hyperoxaluria

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria	2 years

Trial Locations

Locations (1)

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States