Primary Hyperoxaluria Mutation Genotyping
- Conditions
- Primary Hyperoxaluria
- Interventions
- Genetic: Genetic Analysis
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 902
- You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
- You have a family member diagnosed with Primary Hyperoxaluria
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description 1 Genetic Analysis Genetic Analysis
- 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
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Mayo Clinic
🇺🇸Rochester, Minnesota, United States