Rare Kidney Stone Consortium

The Rare Kidney Stone Consortium is a collaborative group of physicians, scientists, patients, families and patient advocacy groups. The Rare Kidney Stone Consortium studies kidney stones with rare causes to better understand how these stones develop and to find new or better treatments.

Investigators in the Rare Kidney Stone Consortium design and coordinate research studies and analyze data about rare kidney conditions. They work closely with multiple foundations and advocacy groups, which serve as important resources for people and families affected by rare kidney stones. They also collaborate with industry sponsors on clinical trials.

Kidney stone formation

Excess oxalate, a chemical made by the body and found in some foods, causes all kidney stones. Having excess oxalate is a condition called hyperoxaluria.

In most cases, hyperoxaluria leading to kidney stones is related to disorders of the digestive tract, known as enteric hyperoxaluria. Hyperoxaluria also can be linked to eating foods high in oxalate. Less often, kidney stones are caused by a change to a single gene that leads to hyperoxaluria. This is known as primary hyperoxaluria.

Rare kidney stones often develop early in life. They can lead to bladder stones, chronic kidney disease and a buildup of calcium salts in the kidneys, which is called nephrocalcinosis. In some people, kidney stones can cause kidney damage and kidney failure.

Studies and registries available

Specific underlying causes of rare kidney stones remain poorly understood. The Rare Kidney Stone Consortium is working to advance scientific understanding through clinical studies, registries, biobanking and genetic testing.

The registries provide researchers with important information about how these conditions begin and progress, such as when kidney stones cause problems and how well the kidneys are working. The registries are crucial for developing clinical trials and helped lead to approval of a new treatment for type 1 primary hyperoxaluria.

We have registries for:

  • Primary hyperoxaluria.
  • Dent disease.
  • Cystinuria.
  • APRT deficiency.
  • CYP24A1 deficiency.
  • Enteric hyperoxaluria.

Data about registry participants are secure and deidentified. This means that personal details are removed before the information is studied so people can't be individually identified.

A biobank complements the registries. The biobank stores samples of DNA, blood and urine. These samples are used to study kidney conditions and identify biomarkers that may be helpful for clinical studies.

The Rare Kidney Stone Consortium also sponsors a research genetic testing program. The program uses targeted next-generation sequencing for more than 160 candidate genes.

Contact us for information about participating in any of these projects.

Funding

Funding for the Rare Kidney Stone Consortium comes from U.S. government and foundation grants. The Rare Kidney Stone Consortium also receives funding from biotechnology companies that are developing novel treatments and methods to prevent, diagnose and treat kidney stones.

Mayo Clinic rare kidney stone researchers

Our external kidney stone collaborators

  • APRT Deficiency Research Group
  • Icelandic Health Science Institute
  • University of Iceland School of Health Sciences
  • Reykjavik, Iceland
  • Michelle A. Baum, M.D.
  • Boston Children's Hospital
  • Boston, Massachusetts
  • Lada Beara Lasic, M.D.
  • NYU Langone Health
  • New York, New York
  • Matthew C. Breeggemann, M.D.
  • UCSF Health
  • San Francisco, California
  • Vidar O. Edvardsson, M.D.
  • Children's Medical Center
  • Landspitali — The National University Hospital of Iceland
  • Reykjavik, Iceland
  • David S. Goldfarb, M.D.
  • NYU Langone Health
  • New York, New York
  • Mini Michael, M.D.
  • Texas Children's Hospital
  • Houston, Texas
  • Lama Nazzal, M.D.
  • NYU Langone Health
  • New York, New York
  • Runoflur Palsson, M.D.
  • Landspitali — The National University Hospital of Iceland
  • Reykjavik, Iceland
  • Steven J. Scheinman, M.D.
  • Geisinger Commonwealth School of Medicine
  • Scranton, Pennsylvania
  • Michael J. Somers, M.D.
  • Boston Children's Hospital
  • Boston, Massachusetts
  • Kyle D. Wood, M.D.
  • UAB Medicine
  • Birmingham, Alabama