Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Completed

Conditions studied: Primary Hyperoxaluria

In brief

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

Key facts

Study ID

NCT02340689

Run by

Mayo Clinic

People needed

1235

Starts

2013-10-01

Expected to finish

2018-12-01

Last updated by the study team

2019-08-19

Who can join

Age: 0 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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.

Where it is running

• Mayo Clinic — Rochester, Minnesota, United States

Full record on ClinicalTrials.gov

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