Clinical Trial: Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

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

Detailed Summary: 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.
Sponsor: Mayo Clinic

Current Primary Outcome: Genotype markers of early symptomatic onset of primary hyperoxaluria [ Time Frame: 5 years ]

Correlation of genotype with severity of disease as defined by age at onset of symptoms


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria [ Time Frame: 5 years ]
    Correlation of genotype with severity of disease as defined by the level of urine oxalate
  • Genotype markers of early loss of kidney function in patients with primary hyperoxaluria. [ Time Frame: 5 years ]
    Correlation of genotype with age at kidney failure


Original Secondary Outcome: Same as current

Information By: Mayo Clinic

Dates:
Date Received: September 16, 2014
Date Started: October 2013
Date Completion: December 2020
Last Updated: July 5, 2016
Last Verified: July 2016