RecruitingNot Applicable

Monogenic Kidney Stone - Genetic Testing

United States6,000 participantsStarted 2017-09-11

Plain-language summary

This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.

Who can participate

SexALL

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Inclusion criteria

✓. Patients \<18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
✓. Patients \>18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
✓. Family history of stones or nephrocalcinosis or unexplained kidney failure
✓. Growth retardation
✓. Metabolic bone disease
✓. Unusual stone composition or pathologic or urinary crystals
✓. Proteinuria
✓. Reduced glomerular filtration rate (GFR)

Exclusion criteria

✕. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases
✕. Unwilling or unable to provide consent/assent

What they're measuring

symptomatic onset of monogenic stone disease

Timeframe: 5 years

Trial details

NCT IDNCT03305835

SponsorMayo Clinic

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-02

Contact for this trial

RKSC Study Coordinators

800-270-4637 RareKidneyStones@mayo.edu

View on ClinicalTrials.gov More Rare Kidney Stone Diseases trials