Rare Kidney Stones Consoritum

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Research Studies

How do I learn more about current open studies?

Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study

How do I participate in a study?

Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in a study.

For All Diseases studied by the RKSC

6401: Hereditary Causes of Nephrolithiasis and Kidney Failure

6404: Biobank Protocol

6408: Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium

Adenine phosphoribosyltransferase (APRT) deficiency (Dihydroxyadeninuria)

6412: Novel Assay for the Determination of Urinary 2,8-Dihydroxyadenine and Other Key Urinary Purine Metabolites


6402: Cystine Capacity (CysCap) Study

6413: Cystinuria Dose Response Study ("Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients with Cystinuria")

Dent Disease

6403: Screening for Dent Disease Mutations in Patients with Proteinuria

6410: Systematic review of clinical biopsies of Dent Disease patients

6414: Role of Phosphorus and FGF 23 in Patients with Dent Disease

Primary hyperoxaluria (PH)

6405: Influence of Hydroxyproline Plasma Concentration on its Metabolism to Oxalate

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


More studies and sites may be opening soon! Please visit us again or Join the Contact Registry!



The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.