Primary Hyperoxaluria Mutation Genotyping

Mayo Clinic

Status: Completed

Conditions: Primary Hyperoxaluria

Treatments: Genetic: Genetic Analysis

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00589225

434-03

R01DK073354 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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

Full description

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.

Enrollment: 902 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

902 participants in 1 patient group

1

Description:

Genetic Analysis

Treatment:

Genetic: Genetic Analysis