Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Primary Hyperoxaluria
- Sponsor
- Mayo Clinic
- Enrollment
- 902
- Locations
- 1
- Primary Endpoint
- To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria
- Status
- Completed
- Last Updated
- 9 years ago
Overview
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.
Investigators
Dawn S. Milliner, M.D.
M.D.
Mayo Clinic
Eligibility Criteria
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
Outcomes
Primary Outcomes
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria
Time Frame: 2 years