Primary Hyperoxaluria Mutation Genotyping/Phenotyping

Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

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

Study Overview

• Status: Completed
• Conditions: Primary Hyperoxaluria
• Intervention / Treatment: Other: Genetic Analysis

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 1235

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

• Patients with clinical characteristics suggesting of primary hyperoxaluria
• Family members of patients with clinical characteristics suggestive of primary hyperoxaluria

Description

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

Exclusion Criteria:

• 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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Genetic testing; Genetic Analysis

Other: 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.; Other Names: 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genotype markers of early symptomatic onset of primary hyperoxaluria	Correlation of genotype with severity of disease as defined by age at onset of symptoms	5 years

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Investigators: Principal Investigator: Dawn Milliner, MD, Mayo Clinic

Publications and helpful links

Helpful Links

• Mayo Clinic Hyperoxaluria Center
• Mayo Clinic Hyperoxaluria and Oxalosis
• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2013
• Primary Completion (Actual): December 1, 2018
• Study Completion (Actual): December 1, 2018

Study Registration Dates

• First Submitted: September 16, 2014
• First Submitted That Met QC Criteria: January 13, 2015
• First Posted (Estimate): January 19, 2015

Study Record Updates

• Last Update Posted (Actual): August 19, 2019
• Last Update Submitted That Met QC Criteria: August 15, 2019
• Last Verified: August 1, 2019

More Information

Terms related to this study

• Keywords: PH; Primary Hyperoxaluria; Hyperoxaluria; PH type 1; PH type 2; PH type 3; Primary Oxalosis; Genetic testing for PH; Genetic testing for Primary Hyperoxaluria; Hereditary study for PH; Hereditary study for Primary Hyperoxaluria; AGXT; GRHPR; HOGA1
• Additional Relevant MeSH Terms: Metabolic Diseases; Kidney Diseases; Urologic Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Hyperoxaluria; Hyperoxaluria, Primary
• Other Study ID Numbers: 13-006384

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No
• IPD Plan Description: Using a limited data set, plans to share data in accordance with NIH funding expectations.