6406: Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria

Status: Recruiting



Primary hyperoxaluria is a rare disorder passed down through family members that can cause high levels of oxalate in the urine, kidney stones, nephrocalcinosis (calcium oxalate deposits in the kidney tissue), and loss of kidney function that can lead to kidney failure.

Patients with a clinical suspicion of primary hyperoxaluria (patients with elevated urine oxalate and/or nephrocalcinosis, kidney stones) and their family members are being asked to take part in this research.

Symptoms and outcomes vary widely even between patients with the same type of PH. Some PH patients lose all kidney function within the first year of life, while others maintain satisfactory kidney function well into middle age. These differences are not completely understood and are only partially influenced by factors such as degree of hyperoxaluria.

Primary hyperoxaluria type 1, type 2 and type 3 result from separate genetic changes in DNA sequences (mutations). To date, more than 160 different genetic mutations have been found in PH. It is possible that differences in these mutations may explain some of the differences in outcome. In this study, DNA obtained from a blood sample will be analyzed to determine the specific mutations present.

The research questions are:

  1. How often do specific mutations causing PH type 1, PH type 2 and PH type 3 appear in patients who have high urine oxalate, kidney stones and nephrocalcinosis?
  2. Do certain mutation types in each gene make individuals with primary hyperoxaluria more likely to develop more severe forms of this disease?
  3. Does the position or type of the genetic mutation affect the amount of oxalate in the urine and the severity of disease outcome?

About this Study

The purpose of this study is to test the DNA of patients with clinical suspicion of primary hyperoxaluria. Genetic material (DNA) can be found in each of your cells. It is specific to you. Genes control traits we inherit from our parents, such as hair and eye color. This study will look at changes (mutations) of the gene (DNA) that are the cause of primary hyperoxaluria. Many different gene mutations have been identified in patients with primary hyperoxaluria. Specific changes in your DNA for the genes that cause primary hyperoxaluria may be identified during the course of this research, or it might be determined no such changes can be identified in your DNA. This study will help us determine whether certain mutations are a cause of more severe disease in primary hyperoxaluria than are other mutations. Such information may help us develop more effective treatments for hyperoxaluria. This research may help in the future diagnosis of primary hyperoxaluria and in our ability to tailor treatment to specific patient needs.

There will be a total of 1110 participants in this study.

Subjects that agree to be in the study will be asked to participate in the following:

  • Provide a blood sample for DNA; the amount of blood drawn for the study is about two - four teaspoons (10 mL) for participants
  • Family members may also be asked to collect urine for a full 24 hours

Targeted Enrollment

To be eligible to participate, you must be an individual who is:

  • A patient with clinical suspicion of primary hyperoxaluria (a patient with elevated urine oxalate, kidney stones, and/or nephrocalcinosis).
  • A family member of a patient who is thought to have primary hyperoxaluria.

You are not eligible to participate if you:

  • You are a stone former who does not have a clinical suspicion of primary hyperoxaluria.
  • You do not have suspected primary hyperoxaluria and are not a relative of someone who does.
  • You are unwilling or unable to provide consent/assent.

How to participate

We greatly appreciate your interest in this study and in advancing the understanding of primary hyperoxaluria.

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

United States

Mayo Clinic Hyperoxaluria Center, Rochester
Contact: Julie Olson, Barb Seide and Alicia Meek
Phone: 800-270-4637
E-mail: hyperoxaluriacenter@mayo.edu