Primary Hyperoxaluria Mutation Genotyping/Phenotyping

NCT ID: NCT02340689

Last Updated: 2019-08-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

1235 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-10-31

Study Completion Date

2018-12-31

Brief Summary

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

Detailed Description

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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.

Conditions

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Primary Hyperoxaluria

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Genetic testing

Genetic Analysis

Genetic Analysis

Intervention Type OTHER

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.

Interventions

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Genetic Analysis

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.

Intervention Type OTHER

Other Intervention Names

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PH PH type 1 Primary Hyperoxaluria Hyperoxlauria Primary Oxalosis PH type 2 PH type 3 Genetic testing for PH Genetic testing for Primary Hyperoxaluria Hereditary study for PH Hereditary study for Primary Hyperoxaluria AGXT GRHPR HOGA1

Eligibility Criteria

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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

* Unwilling or unable to provide consent/assent.
Minimum Eligible Age

1 Day

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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John Lieske

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Dawn Milliner, MD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic

Rochester, Minnesota, United States

Site Status

Countries

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United States

Related Links

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http://www.mayoclinic.org/hyperoxaluria

Mayo Clinic Hyperoxaluria and Oxalosis

Other Identifiers

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13-006384

Identifier Type: -

Identifier Source: org_study_id

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