Clinical Trials

The Primary Hyperoxaluria Registry will help physicians, patients and their families better understand primary hyperoxaluria patients. The Registry is a web-based, confidential database. The information about your health will be maintained in the registry only by your assigned number and not by your name. The information will be maintained confidential in accordance with the local privacy regulations related to medical information. The information about your health will be maintained in the registry only by your assigned number and not by your name.

Because this disease is rare, most physicians typically have limited experience with primary hyperoxaluria patients. Therefore, the best ways to treat primary hyperoxaluria have not been well studied. Patients with primary hyperoxaluria have been diagnosed all over the world, however only a few patients are known in any individual country.

For these reasons, we are trying to combine all international research efforts and pool all information. A PRIMARY HYPEROXALURIA REGISTRY has been established by the Rare Kidney Stone Consortium and recently funded by the National Institutes of Health. Information collected in this registry will increase clinical and research-based understanding of the disease in a manner that no single center could do alone. By making this information available to the physicians and researchers who study primary hyperoxaluria, new ideas can be tested and research progress can be made faster. We are hoping that this may lead to earlier diagnosis and better treatments for you, your family members and other people living with primary hyperoxaluria.

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.