Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Primary Hyperoxaluria
- Sponsor
- Mayo Clinic
- Enrollment
- 1235
- Locations
- 1
- Primary Endpoint
- Genotype markers of early symptomatic onset of primary hyperoxaluria
- Status
- Completed
- Last Updated
- 6 years ago
Overview
Brief Summary
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
Detailed Description
During your study visit, we will draw one tube, about two teaspoons (1 to 1 ½ teaspoons for children), of blood from your arm. White blood cells from the sample will be used as a source of DNA for genetic testing. We will use the DNA to try to identify mutations (changes) in one of the genes that can cause primary hyperoxaluria. This will be done by comparing it with the structure of these genes in normal individuals, patients with primary hyperoxaluria, and family members of primary hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hr urine test may also be collected.
Investigators
John Lieske
Principal Investigator
Mayo Clinic
Eligibility Criteria
Inclusion Criteria
- •Ages birth to 99 years in whom clinical information is available from medical records
- •Patients with a diagnosis of PH confirmed on previous genetic testing
- •Patients with clinical suspicion of primary hyperoxaluria (elevated urine oxalate of greater than 0.8 mmol/1.73 m2/day (\>70 mg/1.73 m2/day), history of kidney stones, and/or nephrocalcinosis documented by medical history or imaging studies
- •First or second degree family members of a patient with primary hyperoxaluria
Exclusion Criteria
- •Stone formers who do not have confirmed PH and do not meet the inclusion criteria for clinical suspicion of primary hyperoxaluria
- •Unwilling or unable to provide consent/assent.
Outcomes
Primary Outcomes
Genotype markers of early symptomatic onset of primary hyperoxaluria
Time Frame: 5 years
Correlation of genotype with severity of disease as defined by age at onset of symptoms
Secondary Outcomes
- Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria(5 years)
- Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.(5 years)