Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Study Overview
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Brief Summary
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Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.

Detailed Description
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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.

Official Title
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Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

Conditions
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Primary Hyperoxaluria

Intervention / Treatment
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* Other: Genetic Analysis


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 1 Day

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Genetic testing<br>Genetic Analysis | Other: Genetic Analysis<br>* 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 analysis.<br>* Other names: HOGA1;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype markers of early symptomatic onset of primary hyperoxaluria | Correlation of genotype with severity of disease as defined by age at onset of symptoms | 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria | Correlation of genotype with severity of disease as defined by the level of urine oxalate | 5 years | 
| Genotype markers of early loss of kidney function in patients with primary hyperoxaluria. | Correlation of genotype with age at kidney failure | 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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PH, PH type 1, Primary Hyperoxaluria, Hyperoxaluria, Primary Oxalosis, PH type 2, PH type 3, Genetic testing for PH, Genetic testing for Primary Hyperoxaluria, Hereditary study for PH, Hereditary study for Primary Hyperoxaluria, AGXT, GRHPR, HOGA1