Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria


Lead Sponsor: Mayo Clinic

Source Mayo Clinic
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.

Overall Status Completed
Start Date October 2013
Completion Date December 2018
Primary Completion Date December 2018
Study Type Observational
Primary Outcome
Measure Time Frame
Genotype markers of early symptomatic onset of primary hyperoxaluria 5 years
Secondary Outcome
Measure Time Frame
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
Enrollment 1235

Intervention Type: Other

Intervention Name: Genetic Analysis

Description: 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.

Arm Group Label: Genetic testing


Sampling Method: Non-Probability Sample


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.

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
Dawn Milliner, MD Principal Investigator Mayo Clinic
Facility: Mayo Clinic
Location Countries

United States

Verification Date

August 2019

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Mayo Clinic

Investigator Full Name: John Lieske

Investigator Title: Principal Investigator

Has Expanded Access No
Condition Browse
Arm Group

Label: Genetic testing

Description: Genetic Analysis

Patient Data No
Study Design Info

Observational Model: Cohort

Time Perspective: Retrospective