Primary Hyperoxaluria Mutation Genotyping

Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria

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

Study Overview

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

Detailed 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.

• Study Type: Observational
• Enrollment (Actual): 902

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

• Patients with clinical findings suggestive of primary hyperoxaluria
• Family members of patiente with clinical findings suggestive of primary hyperoxaluria

Description

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

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
1; Genetic Analysis	Genetic: 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria	2 years

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); Oxalosis and Hyperoxaluria Foundation (OHF)
• Investigators: Principal Investigator: Dawn Milliner, MD, Mayo Clinic

Publications and helpful links

Helpful Links

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

Study record dates

Study Major Dates

• Study Start: December 1, 2003
• Primary Completion (Actual): September 1, 2014
• Study Completion (Actual): September 1, 2014

Study Registration Dates

• First Submitted: December 28, 2007
• First Submitted That Met QC Criteria: December 28, 2007
• First Posted (Estimate): January 9, 2008

Study Record Updates

• Last Update Posted (Estimate): July 7, 2016
• Last Update Submitted That Met QC Criteria: July 5, 2016
• Last Verified: July 1, 2016

More Information

Terms related to this study

• Keywords: PH; Primary Hyperoxaluria; Hyperoxaluria; PH type I; Primary Oxalosis; PH type II; PH type III; Genetic testing for PH; Genetic testing for Primary Hyperoxaluria; Hereditary study for PH; Hereditary study for Primary Hyperoxaluria
• 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: 434-03; R01DK073354 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No