Welcome to the Rare Kidney Stone Consortium


Our Mission

The Consortium facilitates cooperative exchange of information and resources among investigators, clinicians, and patients, and researchers in order to improve care and outcomes for patients with rare stone diseases.  The consortium promotes ready availability of diagnostic testing, pooling of clinical experiences, and availability of tissue banks in order to advance the science. Our goals are to:

  • Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge
  • Stimulate generation of testable hypotheses regarding mechanisms of renal injury in these diseases through registry findings, tissue resources, and pilot projects
  • Develop cohorts of well-characterized patients for future clinical studies
  • Attract and train investigators to rare diseases research in nephrology

News and Upcoming Events

The Rare Kidney Stone Contortium hosts and supports a number of events related to our core disease focus groups. Please check frequently for news and updated information.

  • APRT Deficiency/Dihydroxyadeninuria Registry Announced
    The Rare Kidney Stone Consortium has opened enrollment for the APRT Deficiency and 2,8-Dihydroxyadeninuria Registry at Landspitali – The National University Hospital of Iceland, Reykjavik, Iceland. In this Registry, patients with APRT Deficiency and 2,8-Dihydroxyadeninuria will be enrolled and information collected about their condition annually. The data collected into the Registry will help provide a better understanding of the condition. The goals of the Registry are to collect data about this rare disease and increase awareness and facilitate diagnosis with the ultimate goal of improving outcome of affected patients. For more detailed information on the APRT Deficiency Research Program, contact Inger M. Agustsdottir, RN and Study Coordinator, Vidar Edvardsson, MD or Runolfur Palsson, MD, at rarekidneystones@landspitali.is.
  • Cystinuria Registry Announced
    The Rare Kidney Stone Consortium has opened enrollment for the Cystinuria Registry at New York University. In this registry, patients with cystinuria will be enrolled and information collected about their condition annually. The collected data in this registry will help provide a better understanding of the condition. The goal of this registry is to collect data about this rare disease, that may help to develop better treatment protocols in the future. For more information, please visit the official registry page at New York University.

Consortium Structure

The Rare Kidney Stone Consortium is an organization of diverse participants and independent efforts representing four major diseases of hereditary nephrolithiasis.

Consortium Administration

  • Director | Dawn S. Milliner, M.D. | bio
  • Associate Director | John C. Lieske, M.D. | bio
  • Primary Hyperoxaluria Program Director | Dawn S. Milliner, M.D. | bio
  • Cystinuria Program Director | David Goldfarb, M.D. | bio
  • Dent Disease Program Director | John Lieske, M.D. | bio
  • APRT Deficiency Program Director | Vidar Edvardsson, M.D. | bio

Advocacy Organizations

Additional Resources

Study Sites and Participating Organizations

Domestic:

International