Primary Hyperoxaluria Mutation Genotyping

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

902 participants

Study Classification

OBSERVATIONAL

Study Start Date

2003-12-31

Study Completion Date

2014-09-30

Brief Summary

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This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.

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Detailed Description

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During your study visit, we will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to identify the gene that is defective in Primary Hyperoxaluria by comparing it with the structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hour 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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1

Genetic Analysis

Intervention Type GENETIC

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 testing.

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 testing.

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
* You have a family member diagnosed with Primary Hyperoxaluria

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes