Monogenic Kidney Stone - Genetic Testing

Sponsor

Mayo Clinic (Other)

Overall Status

Recruiting

CT.gov ID

NCT03305835

Collaborator

(none)

2,300

Enrollment

Location

62.7

Anticipated Duration (Months)

36.7

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

90 genes related to Monogenic Stone Disease will be determined via DNA analysis by the Mayo Rare Kidney Stone Consortium (RKSC) research staff.

Condition or Disease	Intervention/Treatment	Phase
Rare 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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

2300 participants

Observational Model:

Cohort

Time Perspective:

Retrospective

Official Title:

Characterization of Monogenic Kidney Stone Diseases

Actual Study Start Date :

Sep 11, 2017

Anticipated Primary Completion Date :

Dec 1, 2022

Anticipated Study Completion Date :

Dec 1, 2022

Outcome Measures

Primary Outcome Measures

symptomatic onset of monogenic stone disease [5 years]
To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.

Secondary Outcome Measures

Genotype markers [5 years]
Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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