Primary Hyperoxaluria
Conditions
Keywords
PH, PH type I, Primary Hyperoxaluria, Hyperoxaluria, Primary Oxalosis, PH type II, PH type III, Genetic testing for PH, Genetic testing for Primary Hyperoxaluria, Hereditary study for PH, Hereditary study for Primary Hyperoxaluria
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.
Interventions
GENETICGenetic Analysis
We will draw one tube 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.
Sponsors
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Oxalosis and Hyperoxaluria Foundation (OHF)
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria | 2 years |
Countries
United States
Outcome results
None listed