Monogenic Kidney Stone - Genetic Testing
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Rare Kidney Stone Diseases. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Characterization of Monogenic Kidney Stone Diseases
Overview
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.
Detailed description
Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire
In addition to the above testing, family members may be asked to participate in the following:
• Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share the results with your local doctor. All family members, of a patient whose genetic testing showed no known mutations, will not be tested. These samples will be stored for future research.
Primary outcome measures
- symptomatic onset of monogenic stone disease [Time frame: 5 years]
Secondary outcome measures (1)
- Genotype markers [Time frame: 5 years]
Eligibility criteria
Inclusion criteria
Participants meet at least one of the following 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)
- Hypomagnesemia or hypophosphatemia or hypercalcemia
- Increased oxalate
- Renal cysts, OR
- Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
- Patients previously enrolled in the Rare Kidney Stone Consortium 6406 protocol (identified as legacy samples), "Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
- Patients previously enrolled in the Rare Kidney Stone Consortium 6403 protocol (identified as legacy samples), "Screening for Dent Disease Mutations in Patients with Proteinuria or Hypercalciuria and Calcium Urolithiasis." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
- Family member of a patient that meets at least one of the above criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Mayo Clinic — Rochester
Identifiers
NCT: NCT03305835 · 17-005513 · U54DK083908