Primary Hyperoxaluria Mutation Genotyping/Phenotyping


About this study

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

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

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.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status

Rochester, Minn.

Mayo Clinic principal investigator

Peter Harris, Ph.D.

Closed for enrollment

More information


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