6419: Characterization of Monogenic Kidney Stone Diseases

Status: Recruiting

This study will attempt to identify genes and changes within genes (mutations) that cause inherited forms of kidney stone disease. Specific changes in your DNA may be identified during the course of this research that will help diagnose the disease. This study will help us determine what genes are associated with kidney stones. This information may help us develop more effective treatments for kidney stone diseases. If a specific mutation is identified in a patient that appears to contribute to his/her kidney stone disease, interested family members will also be tested to determine if they have the same mutations that may increase their risk for the disease./p>

For Diseases

Inherited kidney stone disorders can be the result of changes in a number of genes, approximately 90 of which will be tested for in this study. The diseases include, but are not limited to primary hyperoxaluria (PH), cystinuria, Dent/Lowe disease, adenine phosphoribosyltransferase deficiency (APRTd), and CYP24A1 associated disease.

Background

The purpose of this study is to identify changes in genes of patients who are suspected of having inherited forms of kidney stone disease. Specific changes in genes known to be associated with rare kidney stone diseases will be determined using DNA isolated for blood or buccal swab samples (rubbing a cotton swab on the inside of your cheek). RKSC investigators will test for changes in about 90 genes using these samples. The main goals of this study are to identify and understand the genetic causes of kidney stones and nephrocalcinosis (calcium or other mineral deposition in kidney tissue).

Primary study objective:

  • To identify and define genetic diseases causing kidney stones and mineral deposits within kidneys (nephrocalcinosis).

Secondary study objectives:

  • To identify new genetic causes of stone disease and nephrocalcinosis
  • To compare kidney stone symptoms and severity with specific changes in genes that are associated with kidney stone formation
  • To determine if some types of gene changes that do not directly cause kidney stones, might worsen or otherwise modify symptoms and severity of kidney stones

About this Study

This is an observational study with a total sample size of 2,300.

Participants will be asked to:

  • Sign a consent form indicating willingness to participate
  • Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell
  • Collection (using a cotton swab to rub the inside of the cheek) for DNA or RNA isolation
  • Complete a kidney stone history questionnaire
  • Provide copies of medical records for review by investigators. We will look at your medical records from your local doctor’s office so that we can collect information about your medical history
  • In addition to the above testing, family members may be asked to participate in completing a 24 hr. urine collection.

Targeted Enrollment

To be eligible to participate, you must meet at least ONE of the following criteria:

  • Patients <18 yrs of age with a history of kidney stones, and/or nephrocalcinosis

OR

  • Patients ≥18 yrs of age with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
    • Family history of kidney stones or nephrocalcinosis or unexplained kidney failure
    • Growth retardation
    • Bone disease caused by metabolic changes
    • Unusual stone composition, changes in kidney tissue, or urinary crystals
    • Abnormal amounts of protein in the urine
    • Reduced kidney function
    • Low blood levels of magnesium or phosphorus, or high blood levels of calcium.
    • High levels of urine or blood oxalate
    • Kidney cysts

OR

  • Patients with a high clinical suspicion for an inherited form of kidney stone disease or a disorder of calcium metabolism

OR

  • Family member of a patient that meets at least one of the above criteria

You are not eligible to participate if:

  • You have kidney stone disease that does not appear related to an inherited condition.

How to participate

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

New York

New York University/New York University School of Medicine, New York
Contact: Frank Modersitzki
Phone: 212-263-0744
E-mail: Frank.Modersitzki@nyumc.org
Principal Investigators: David Goldfarb, MD and Lada Beara Lasic, MD

Minnesota

Mayo Clinic Hyperoxaluria Center, Rochester
Study Coordinators:
Phone: 800-270-4637
E-mail: hyperoxaluriacenter@mayo.edu
E-mail: rarekidneystones@mayo.edu
Principal Investigators/Study Chairs: Peter Harris PhD and David Sas DO

Iceland

Landspitali – The National University Hospital of Iceland, Reykjavik
Contact: Inger M. Agustdottir
Phone: +354-824-5227
E-mail: ingeragu@landpitali.is
Principal Investigators: Vidar Edvardsson, MD and Runolfur Palsson, MD