Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Mayo Clinic1,235 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

1,235

Conditions

Primary Hyperoxaluria

Interventions

Genetic AnalysisOTHER

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.

Eligibility

Sex: ALLMin age: 1 Day

Medical Language ↔ Plain English

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.

Locations (1)

Mayo Clinic

Rochester, Minnesota, United States

Outcomes

Primary Outcomes

Genotype markers of early symptomatic onset of primary hyperoxaluria

Correlation of genotype with severity of disease as defined by age at onset of symptoms

Time frame: 5 years

Secondary Outcomes

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

Time frame: 5 years

Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.

Correlation of genotype with age at kidney failure

Time frame: 5 years

Data from ClinicalTrials.gov

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