Primary Hyperoxaluria Mutation Genotyping/Phenotyping
Overview
Tab Title Description
Study type
InterventionalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Site IRB
- Rochester, Minnesota: 13-006384
NCT ID: NCT02340689
Sponsor Protocol Number: 6406
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
Publications
Publications are currently not available